NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions

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: Online Mendelian Inheritance in Man - XML Representation

Draft as of 2022-12-09

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="omim"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p>This code system <code>https://omim.org/</code> defines many codes, of which the following are a subset:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style="white-space:nowrap">OMIM:613801<a name="omim-OMIM.58613801"> </a></td><td>Retinitis pigmentosa-40</td></tr><tr><td style="white-space:nowrap">OMIM:213300<a name="omim-OMIM.58213300"> </a></td><td>Joubert syndrome 1</td></tr><tr><td style="white-space:nowrap">OMIM:615780<a name="omim-OMIM.58615780"> </a></td><td>Retinitis pigmentosa 69</td></tr><tr><td style="white-space:nowrap">OMIM:613826<a name="omim-OMIM.58613826"> </a></td><td>Leber congenital amaurosis 6</td></tr><tr><td style="white-space:nowrap">OMIM:310200<a name="omim-OMIM.58310200"> </a></td><td>Duchenne muscular dystrophy</td></tr><tr><td style="white-space:nowrap">OMIM:617194<a name="omim-OMIM.58617194"> </a></td><td>Lethal congenital contracture syndrome 11</td></tr><tr><td style="white-space:nowrap">OMIM:105400<a name="omim-OMIM.58105400"> </a></td><td>AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1</td></tr><tr><td style="white-space:nowrap">OMIM:108120<a name="omim-OMIM.58108120"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A</td></tr><tr><td style="white-space:nowrap">OMIM:114300<a name="omim-OMIM.58114300"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3</td></tr><tr><td style="white-space:nowrap">OMIM:115195<a name="omim-OMIM.58115195"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2</td></tr><tr><td style="white-space:nowrap">OMIM:115196<a name="omim-OMIM.58115196"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3</td></tr><tr><td style="white-space:nowrap">OMIM:115197<a name="omim-OMIM.58115197"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4</td></tr><tr><td style="white-space:nowrap">OMIM:115200<a name="omim-OMIM.58115200"> </a></td><td>CARDIOMYOPATHY, DILATED, 1A; CMD1A</td></tr><tr><td style="white-space:nowrap">OMIM:117000<a name="omim-OMIM.58117000"> </a></td><td>CENTRAL CORE DISEASE OF MUSCLE; CCD</td></tr><tr><td style="white-space:nowrap">OMIM:117360<a name="omim-OMIM.58117360"> </a></td><td>SPINOCEREBELLAR ATAXIA 29; SCA29</td></tr><tr><td style="white-space:nowrap">OMIM:119530<a name="omim-OMIM.58119530"> </a></td><td>OROFACIAL CLEFT 1; OFC1</td></tr><tr><td style="white-space:nowrap">OMIM:122470<a name="omim-OMIM.58122470"> </a></td><td>CORNELIA DE LANGE SYNDROME 1; CDLS1</td></tr><tr><td style="white-space:nowrap">OMIM:130600<a name="omim-OMIM.58130600"> </a></td><td>ELLIPTOCYTOSIS 2; EL2</td></tr><tr><td style="white-space:nowrap">OMIM:135900<a name="omim-OMIM.58135900"> </a></td><td>COFFIN-SIRIS SYNDROME 1; CSS1</td></tr><tr><td style="white-space:nowrap">OMIM:136140<a name="omim-OMIM.58136140"> </a></td><td>FLOATING-HARBOR SYNDROME; FLHS</td></tr><tr><td style="white-space:nowrap">OMIM:137920<a name="omim-OMIM.58137920"> </a></td><td>RENAL CYSTS AND DIABETES SYNDROME; RCAD</td></tr><tr><td style="white-space:nowrap">OMIM:139090<a name="omim-OMIM.58139090"> </a></td><td>GRAY PLATELET SYNDROME; GPS</td></tr><tr><td style="white-space:nowrap">OMIM:139210<a name="omim-OMIM.58139210"> </a></td><td>MYHRE SYNDROME; MYHRS</td></tr><tr><td style="white-space:nowrap">OMIM:143095<a name="omim-OMIM.58143095"> </a></td><td>SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD</td></tr><tr><td style="white-space:nowrap">OMIM:143465<a name="omim-OMIM.58143465"> </a></td><td>ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD</td></tr><tr><td style="white-space:nowrap">OMIM:147891<a name="omim-OMIM.58147891"> </a></td><td>ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS</td></tr><tr><td style="white-space:nowrap">OMIM:147920<a name="omim-OMIM.58147920"> </a></td><td>KABUKI SYNDROME 1; KABUK1</td></tr><tr><td style="white-space:nowrap">OMIM:148050<a name="omim-OMIM.58148050"> </a></td><td>KBG SYNDROME; KBGS</td></tr><tr><td style="white-space:nowrap">OMIM:149400<a name="omim-OMIM.58149400"> </a></td><td>HYPEREKPLEXIA 1; HKPX1</td></tr><tr><td style="white-space:nowrap">OMIM:152950<a name="omim-OMIM.58152950"> </a></td><td>MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR</td></tr><tr><td style="white-space:nowrap">OMIM:153670<a name="omim-OMIM.58153670"> </a></td><td>BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2</td></tr><tr><td style="white-space:nowrap">OMIM:154400<a name="omim-OMIM.58154400"> </a></td><td>ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1</td></tr><tr><td style="white-space:nowrap">OMIM:154700<a name="omim-OMIM.58154700"> </a></td><td>MARFAN SYNDROME; MFS</td></tr><tr><td style="white-space:nowrap">OMIM:155310<a name="omim-OMIM.58155310"> </a></td><td>VISCERAL MYOPATHY; VSCM</td></tr><tr><td style="white-space:nowrap">OMIM:158590<a name="omim-OMIM.58158590"> </a></td><td>NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A</td></tr><tr><td style="white-space:nowrap">OMIM:158810<a name="omim-OMIM.58158810"> </a></td><td>BETHLEM MYOPATHY 1; BTHLM1</td></tr><tr><td style="white-space:nowrap">OMIM:159550<a name="omim-OMIM.58159550"> </a></td><td>ATAXIA-PANCYTOPENIA SYNDROME; ATXPC</td></tr><tr><td style="white-space:nowrap">OMIM:160150<a name="omim-OMIM.58160150"> </a></td><td>MYOPATHY, CENTRONUCLEAR, 1; CNM1</td></tr><tr><td style="white-space:nowrap">OMIM:160500<a name="omim-OMIM.58160500"> </a></td><td>MYOPATHY, DISTAL, 1; MPD1</td></tr><tr><td style="white-space:nowrap">OMIM:160800<a name="omim-OMIM.58160800"> </a></td><td>MYOTONIA CONGENITA, AUTOSOMAL DOMINANT</td></tr><tr><td style="white-space:nowrap">OMIM:160900<a name="omim-OMIM.58160900"> </a></td><td>MYOTONIC DYSTROPHY 1; DM1</td></tr><tr><td style="white-space:nowrap">OMIM:161800<a name="omim-OMIM.58161800"> </a></td><td>NEMALINE MYOPATHY 3; NEM3</td></tr><tr><td style="white-space:nowrap">OMIM:163950<a name="omim-OMIM.58163950"> </a></td><td>NOONAN SYNDROME 1; NS1</td></tr><tr><td style="white-space:nowrap">OMIM:178110<a name="omim-OMIM.58178110"> </a></td><td>CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A</td></tr><tr><td style="white-space:nowrap">OMIM:178500<a name="omim-OMIM.58178500"> </a></td><td>PULMONARY FIBROSIS, IDIOPATHIC; IPF</td></tr><tr><td style="white-space:nowrap">OMIM:180100<a name="omim-OMIM.58180100"> </a></td><td>RETINITIS PIGMENTOSA 1; RP1</td></tr><tr><td style="white-space:nowrap">OMIM:180849<a name="omim-OMIM.58180849"> </a></td><td>RUBINSTEIN-TAYBI SYNDROME 1; RSTS1</td></tr><tr><td style="white-space:nowrap">OMIM:181430<a name="omim-OMIM.58181430"> </a></td><td>SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM</td></tr><tr><td style="white-space:nowrap">OMIM:182601<a name="omim-OMIM.58182601"> </a></td><td>SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4</td></tr><tr><td style="white-space:nowrap">OMIM:188000<a name="omim-OMIM.58188000"> </a></td><td>THROMBOCYTOPENIA 2; THC2</td></tr><tr><td style="white-space:nowrap">OMIM:191480<a name="omim-OMIM.58191480"> </a></td><td>UNCOMBABLE HAIR SYNDROME 1; UHS1</td></tr><tr><td style="white-space:nowrap">OMIM:203800<a name="omim-OMIM.58203800"> </a></td><td>ALSTROM SYNDROME; ALMS</td></tr><tr><td style="white-space:nowrap">OMIM:204200<a name="omim-OMIM.58204200"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3</td></tr><tr><td style="white-space:nowrap">OMIM:204500<a name="omim-OMIM.58204500"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2</td></tr><tr><td style="white-space:nowrap">OMIM:205100<a name="omim-OMIM.58205100"> </a></td><td>AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2</td></tr><tr><td style="white-space:nowrap">OMIM:206900<a name="omim-OMIM.58206900"> </a></td><td>MICROPHTHALMIA, SYNDROMIC 3; MCOPS3</td></tr><tr><td style="white-space:nowrap">OMIM:208900<a name="omim-OMIM.58208900"> </a></td><td>ATAXIA-TELANGIECTASIA; AT</td></tr><tr><td style="white-space:nowrap">OMIM:209850<a name="omim-OMIM.58209850"> </a></td><td>AUTISM</td></tr><tr><td style="white-space:nowrap">OMIM:209900<a name="omim-OMIM.58209900"> </a></td><td>BARDET-BIEDL SYNDROME 1; BBS1</td></tr><tr><td style="white-space:nowrap">OMIM:210000<a name="omim-OMIM.58210000"> </a></td><td>BEHR SYNDROME; BEHRS</td></tr><tr><td style="white-space:nowrap">OMIM:210720<a name="omim-OMIM.58210720"> </a></td><td>MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2</td></tr><tr><td style="white-space:nowrap">OMIM:210900<a name="omim-OMIM.58210900"> </a></td><td>BLOOM SYNDROME; BLM</td></tr><tr><td style="white-space:nowrap">OMIM:212065<a name="omim-OMIM.58212065"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A</td></tr><tr><td style="white-space:nowrap">OMIM:212066<a name="omim-OMIM.58212066"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A</td></tr><tr><td style="white-space:nowrap">OMIM:214500<a name="omim-OMIM.58214500"> </a></td><td>CHEDIAK-HIGASHI SYNDROME; CHS</td></tr><tr><td style="white-space:nowrap">OMIM:214800<a name="omim-OMIM.58214800"> </a></td><td>CHARGE SYNDROME</td></tr><tr><td style="white-space:nowrap">OMIM:215500<a name="omim-OMIM.58215500"> </a></td><td>CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1</td></tr><tr><td style="white-space:nowrap">OMIM:216400<a name="omim-OMIM.58216400"> </a></td><td>COCKAYNE SYNDROME A; CSA</td></tr><tr><td style="white-space:nowrap">OMIM:216550<a name="omim-OMIM.58216550"> </a></td><td>COHEN SYNDROME; COH1</td></tr><tr><td style="white-space:nowrap">OMIM:217080<a name="omim-OMIM.58217080"> </a></td><td>JALILI SYNDROME</td></tr><tr><td style="white-space:nowrap">OMIM:217980<a name="omim-OMIM.58217980"> </a></td><td>CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE</td></tr><tr><td style="white-space:nowrap">OMIM:218340<a name="omim-OMIM.58218340"> </a></td><td>TEMTAMY SYNDROME; TEMTYS</td></tr><tr><td style="white-space:nowrap">OMIM:219200<a name="omim-OMIM.58219200"> </a></td><td>CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A</td></tr><tr><td style="white-space:nowrap">OMIM:224050<a name="omim-OMIM.58224050"> </a></td><td>CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1</td></tr><tr><td style="white-space:nowrap">OMIM:224690<a name="omim-OMIM.58224690"> </a></td><td>MEIER-GORLIN SYNDROME 1; MGORS1</td></tr><tr><td style="white-space:nowrap">OMIM:225753<a name="omim-OMIM.58225753"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4</td></tr><tr><td style="white-space:nowrap">OMIM:225790<a name="omim-OMIM.58225790"> </a></td><td>PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH</td></tr><tr><td style="white-space:nowrap">OMIM:227650<a name="omim-OMIM.58227650"> </a></td><td>FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA</td></tr><tr><td style="white-space:nowrap">OMIM:229600<a name="omim-OMIM.58229600"> </a></td><td>FRUCTOSE INTOLERANCE, HEREDITARY; HFI</td></tr><tr><td style="white-space:nowrap">OMIM:230000<a name="omim-OMIM.58230000"> </a></td><td>FUCOSIDOSIS</td></tr><tr><td style="white-space:nowrap">OMIM:230500<a name="omim-OMIM.58230500"> </a></td><td>GM1-GANGLIOSIDOSIS, TYPE I</td></tr><tr><td style="white-space:nowrap">OMIM:232300<a name="omim-OMIM.58232300"> </a></td><td>GLYCOGEN STORAGE DISEASE II; GSD2</td></tr><tr><td style="white-space:nowrap">OMIM:232600<a name="omim-OMIM.58232600"> </a></td><td>GLYCOGEN STORAGE DISEASE V; GSD5</td></tr><tr><td style="white-space:nowrap">OMIM:234200<a name="omim-OMIM.58234200"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1</td></tr><tr><td style="white-space:nowrap">OMIM:234500<a name="omim-OMIM.58234500"> </a></td><td>HARTNUP DISORDER; HND</td></tr><tr><td style="white-space:nowrap">OMIM:236000<a name="omim-OMIM.58236000"> </a></td><td>LYMPHOMA, HODGKIN, CLASSIC; CHL</td></tr><tr><td style="white-space:nowrap">OMIM:236600<a name="omim-OMIM.58236600"> </a></td><td>HYDROCEPHALUS, CONGENITAL, 1; HYC1</td></tr><tr><td style="white-space:nowrap">OMIM:236792<a name="omim-OMIM.58236792"> </a></td><td>L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA</td></tr><tr><td style="white-space:nowrap">OMIM:243310<a name="omim-OMIM.58243310"> </a></td><td>BARAITSER-WINTER SYNDROME 1; BRWS1</td></tr><tr><td style="white-space:nowrap">OMIM:244450<a name="omim-OMIM.58244450"> </a></td><td>KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS</td></tr><tr><td style="white-space:nowrap">OMIM:245200<a name="omim-OMIM.58245200"> </a></td><td>KRABBE DISEASE</td></tr><tr><td style="white-space:nowrap">OMIM:245359<a name="omim-OMIM.58245359"> </a></td><td>missing</td></tr><tr><td style="white-space:nowrap">OMIM:248200<a name="omim-OMIM.58248200"> </a></td><td>STARGARDT DISEASE 1; STGD1</td></tr><tr><td style="white-space:nowrap">OMIM:248700<a name="omim-OMIM.58248700"> </a></td><td>MARDEN-WALKER SYNDROME; MWKS</td></tr><tr><td style="white-space:nowrap">OMIM:249000<a name="omim-OMIM.58249000"> </a></td><td>MECKEL SYNDROME, TYPE 1; MKS1</td></tr><tr><td style="white-space:nowrap">OMIM:249900<a name="omim-OMIM.58249900"> </a></td><td>METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY</td></tr><tr><td style="white-space:nowrap">OMIM:250100<a name="omim-OMIM.58250100"> </a></td><td>METACHROMATIC LEUKODYSTROPHY; MLD</td></tr><tr><td style="white-space:nowrap">OMIM:250620<a name="omim-OMIM.58250620"> </a></td><td>3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD</td></tr><tr><td style="white-space:nowrap">OMIM:251200<a name="omim-OMIM.58251200"> </a></td><td>MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1</td></tr><tr><td style="white-space:nowrap">OMIM:251260<a name="omim-OMIM.58251260"> </a></td><td>NIJMEGEN BREAKAGE SYNDROME; NBS</td></tr><tr><td style="white-space:nowrap">OMIM:251280<a name="omim-OMIM.58251280"> </a></td><td>DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1</td></tr><tr><td style="white-space:nowrap">OMIM:251290<a name="omim-OMIM.58251290"> </a></td><td>PSEUDO-TORCH SYNDROME 1; PTORCH1</td></tr><tr><td style="white-space:nowrap">OMIM:251300<a name="omim-OMIM.58251300"> </a></td><td>GALLOWAY-MOWAT SYNDROME 1; GAMOS1</td></tr><tr><td style="white-space:nowrap">OMIM:252010<a name="omim-OMIM.58252010"> </a></td><td>MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1</td></tr><tr><td style="white-space:nowrap">OMIM:252160<a name="omim-OMIM.58252160"> </a></td><td>MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB</td></tr><tr><td style="white-space:nowrap">OMIM:252920<a name="omim-OMIM.58252920"> </a></td><td>MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B</td></tr><tr><td style="white-space:nowrap">OMIM:253250<a name="omim-OMIM.58253250"> </a></td><td>MULIBREY NANISM</td></tr><tr><td style="white-space:nowrap">OMIM:253600<a name="omim-OMIM.58253600"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1</td></tr><tr><td style="white-space:nowrap">OMIM:253601<a name="omim-OMIM.58253601"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2</td></tr><tr><td style="white-space:nowrap">OMIM:253700<a name="omim-OMIM.58253700"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5</td></tr><tr><td style="white-space:nowrap">OMIM:254090<a name="omim-OMIM.58254090"> </a></td><td>ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1</td></tr><tr><td style="white-space:nowrap">OMIM:254110<a name="omim-OMIM.58254110"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8</td></tr><tr><td style="white-space:nowrap">OMIM:254300<a name="omim-OMIM.58254300"> </a></td><td>MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10</td></tr><tr><td style="white-space:nowrap">OMIM:254780<a name="omim-OMIM.58254780"> </a></td><td>MYOCLONIC EPILEPSY OF LAFORA</td></tr><tr><td style="white-space:nowrap">OMIM:254940<a name="omim-OMIM.58254940"> </a></td><td>CAREY-FINEMAN-ZITER SYNDROME; CFZS</td></tr><tr><td style="white-space:nowrap">OMIM:255310<a name="omim-OMIM.58255310"> </a></td><td>MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD</td></tr><tr><td style="white-space:nowrap">OMIM:255320<a name="omim-OMIM.58255320"> </a></td><td>MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA</td></tr><tr><td style="white-space:nowrap">OMIM:255800<a name="omim-OMIM.58255800"> </a></td><td>SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1</td></tr><tr><td style="white-space:nowrap">OMIM:256000<a name="omim-OMIM.58256000"> </a></td><td>LEIGH SYNDROME; LS</td></tr><tr><td style="white-space:nowrap">OMIM:256300<a name="omim-OMIM.58256300"> </a></td><td>NEPHROTIC SYNDROME, TYPE 1; NPHS1</td></tr><tr><td style="white-space:nowrap">OMIM:256600<a name="omim-OMIM.58256600"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A</td></tr><tr><td style="white-space:nowrap">OMIM:256700<a name="omim-OMIM.58256700"> </a></td><td>NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1</td></tr><tr><td style="white-space:nowrap">OMIM:256730<a name="omim-OMIM.58256730"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1</td></tr><tr><td style="white-space:nowrap">OMIM:256731<a name="omim-OMIM.58256731"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5</td></tr><tr><td style="white-space:nowrap">OMIM:256800<a name="omim-OMIM.58256800"> </a></td><td>INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA</td></tr><tr><td style="white-space:nowrap">OMIM:256850<a name="omim-OMIM.58256850"> </a></td><td>GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1</td></tr><tr><td style="white-space:nowrap">OMIM:257220<a name="omim-OMIM.58257220"> </a></td><td>NIEMANN-PICK DISEASE, TYPE C1; NPC1</td></tr><tr><td style="white-space:nowrap">OMIM:257320<a name="omim-OMIM.58257320"> </a></td><td>LISSENCEPHALY 2; LIS2</td></tr><tr><td style="white-space:nowrap">OMIM:260400<a name="omim-OMIM.58260400"> </a></td><td>SHWACHMAN-DIAMOND SYNDROME 1; SDS1</td></tr><tr><td style="white-space:nowrap">OMIM:260565<a name="omim-OMIM.58260565"> </a></td><td>PEHO SYNDROME; PEHO</td></tr><tr><td style="white-space:nowrap">OMIM:261630<a name="omim-OMIM.58261630"> </a></td><td>HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C</td></tr><tr><td style="white-space:nowrap">OMIM:262500<a name="omim-OMIM.58262500"> </a></td><td>LARON SYNDROME</td></tr><tr><td style="white-space:nowrap">OMIM:263200<a name="omim-OMIM.58263200"> </a></td><td>POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4</td></tr><tr><td style="white-space:nowrap">OMIM:265000<a name="omim-OMIM.58265000"> </a></td><td>MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS</td></tr><tr><td style="white-space:nowrap">OMIM:266100<a name="omim-OMIM.58266100"> </a></td><td>EPILEPSY, PYRIDOXINE-DEPENDENT; EPD</td></tr><tr><td style="white-space:nowrap">OMIM:266265<a name="omim-OMIM.58266265"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C</td></tr><tr><td style="white-space:nowrap">OMIM:266500<a name="omim-OMIM.58266500"> </a></td><td>REFSUM DISEASE, CLASSIC</td></tr><tr><td style="white-space:nowrap">OMIM:266510<a name="omim-OMIM.58266510"> </a></td><td>PEROXISOME BIOGENESIS DISORDER 3B; PBD3B</td></tr><tr><td style="white-space:nowrap">OMIM:268800<a name="omim-OMIM.58268800"> </a></td><td>SANDHOFF DISEASE</td></tr><tr><td style="white-space:nowrap">OMIM:270200<a name="omim-OMIM.58270200"> </a></td><td>SJOGREN-LARSSON SYNDROME; SLS</td></tr><tr><td style="white-space:nowrap">OMIM:270800<a name="omim-OMIM.58270800"> </a></td><td>SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A</td></tr><tr><td style="white-space:nowrap">OMIM:271900<a name="omim-OMIM.58271900"> </a></td><td>CANAVAN DISEASE</td></tr><tr><td style="white-space:nowrap">OMIM:272800<a name="omim-OMIM.58272800"> </a></td><td>TAY-SACHS DISEASE; TSD</td></tr><tr><td style="white-space:nowrap">OMIM:273300<a name="omim-OMIM.58273300"> </a></td><td>TESTICULAR GERM CELL TUMOR; TGCT</td></tr><tr><td style="white-space:nowrap">OMIM:274000<a name="omim-OMIM.58274000"> </a></td><td>THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR</td></tr><tr><td style="white-space:nowrap">OMIM:276901<a name="omim-OMIM.58276901"> </a></td><td>USHER SYNDROME, TYPE IIA; USH2A</td></tr><tr><td style="white-space:nowrap">OMIM:277470<a name="omim-OMIM.58277470"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A</td></tr><tr><td style="white-space:nowrap">OMIM:300029<a name="omim-OMIM.58300029"> </a></td><td>RETINITIS PIGMENTOSA 3; RP3</td></tr><tr><td style="white-space:nowrap">OMIM:300067<a name="omim-OMIM.58300067"> </a></td><td>LISSENCEPHALY, X-LINKED, 1; LISX1</td></tr><tr><td style="white-space:nowrap">OMIM:300088<a name="omim-OMIM.58300088"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9</td></tr><tr><td style="white-space:nowrap">OMIM:300100<a name="omim-OMIM.58300100"> </a></td><td>ADRENOLEUKODYSTROPHY; ALD</td></tr><tr><td style="white-space:nowrap">OMIM:300376<a name="omim-OMIM.58300376"> </a></td><td>MUSCULAR DYSTROPHY, BECKER TYPE; BMD</td></tr><tr><td style="white-space:nowrap">OMIM:300387<a name="omim-OMIM.58300387"> </a></td><td>MENTAL RETARDATION, X-LINKED 63; MRX63</td></tr><tr><td style="white-space:nowrap">OMIM:300476<a name="omim-OMIM.58300476"> </a></td><td>CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3</td></tr><tr><td style="white-space:nowrap">OMIM:300486<a name="omim-OMIM.58300486"> </a></td><td>MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE</td></tr><tr><td style="white-space:nowrap">OMIM:300495<a name="omim-OMIM.58300495"> </a></td><td>AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2</td></tr><tr><td style="white-space:nowrap">OMIM:300523<a name="omim-OMIM.58300523"> </a></td><td>ALLAN-HERNDON-DUDLEY SYNDROME; AHDS</td></tr><tr><td style="white-space:nowrap">OMIM:300534<a name="omim-OMIM.58300534"> </a></td><td>MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ</td></tr><tr><td style="white-space:nowrap">OMIM:300695<a name="omim-OMIM.58300695"> </a></td><td>SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM</td></tr><tr><td style="white-space:nowrap">OMIM:300749<a name="omim-OMIM.58300749"> </a></td><td>MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH</td></tr><tr><td style="white-space:nowrap">OMIM:300804<a name="omim-OMIM.58300804"> </a></td><td>JOUBERT SYNDROME 10; JBTS10</td></tr><tr><td style="white-space:nowrap">OMIM:300881<a name="omim-OMIM.58300881"> </a></td><td>MOVED TO 615777</td></tr><tr><td style="white-space:nowrap">OMIM:300882<a name="omim-OMIM.58300882"> </a></td><td>CORNELIA DE LANGE SYNDROME 5; CDLS5</td></tr><tr><td style="white-space:nowrap">OMIM:300894<a name="omim-OMIM.58300894"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5</td></tr><tr><td style="white-space:nowrap">OMIM:300908<a name="omim-OMIM.58300908"> </a></td><td>ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY</td></tr><tr><td style="white-space:nowrap">OMIM:300957<a name="omim-OMIM.58300957"> </a></td><td>MENTAL RETARDATION, X-LINKED 12; MRX12</td></tr><tr><td style="white-space:nowrap">OMIM:300958<a name="omim-OMIM.58300958"> </a></td><td>INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB</td></tr><tr><td style="white-space:nowrap">OMIM:300966<a name="omim-OMIM.58300966"> </a></td><td>MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33</td></tr><tr><td style="white-space:nowrap">OMIM:300968<a name="omim-OMIM.58300968"> </a></td><td>MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F</td></tr><tr><td style="white-space:nowrap">OMIM:300983<a name="omim-OMIM.58300983"> </a></td><td>MENTAL RETARDATION, X-LINKED 104; MRX104</td></tr><tr><td style="white-space:nowrap">OMIM:300986<a name="omim-OMIM.58300986"> </a></td><td>MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB</td></tr><tr><td style="white-space:nowrap">OMIM:301050<a name="omim-OMIM.58301050"> </a></td><td>ALPORT SYNDROME 1, X-LINKED; ATS1</td></tr><tr><td style="white-space:nowrap">OMIM:301310<a name="omim-OMIM.58301310"> </a></td><td>ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT</td></tr><tr><td style="white-space:nowrap">OMIM:304340<a name="omim-OMIM.58304340"> </a></td><td>PETTIGREW SYNDROME; PGS</td></tr><tr><td style="white-space:nowrap">OMIM:305100<a name="omim-OMIM.58305100"> </a></td><td>ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED</td></tr><tr><td style="white-space:nowrap">OMIM:308350<a name="omim-OMIM.58308350"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1</td></tr><tr><td style="white-space:nowrap">OMIM:309500<a name="omim-OMIM.58309500"> </a></td><td>RENPENNING SYNDROME 1; RENS1</td></tr><tr><td style="white-space:nowrap">OMIM:309541<a name="omim-OMIM.58309541"> </a></td><td>METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE</td></tr><tr><td style="white-space:nowrap">OMIM:309580<a name="omim-OMIM.58309580"> </a></td><td>MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1</td></tr><tr><td style="white-space:nowrap">OMIM:310468<a name="omim-OMIM.58310468"> </a></td><td>NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN</td></tr><tr><td style="white-space:nowrap">OMIM:311070<a name="omim-OMIM.58311070"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5</td></tr><tr><td style="white-space:nowrap">OMIM:313850<a name="omim-OMIM.58313850"> </a></td><td>THORACOABDOMINAL SYNDROME; THAS</td></tr><tr><td style="white-space:nowrap">OMIM:314580<a name="omim-OMIM.58314580"> </a></td><td>WIEACKER-WOLFF SYNDROME; WRWF</td></tr><tr><td style="white-space:nowrap">OMIM:600059<a name="omim-OMIM.58600059"> </a></td><td>RETINITIS PIGMENTOSA 13; RP13</td></tr><tr><td style="white-space:nowrap">OMIM:600105<a name="omim-OMIM.58600105"> </a></td><td>RETINITIS PIGMENTOSA 12; RP12</td></tr><tr><td style="white-space:nowrap">OMIM:600118<a name="omim-OMIM.58600118"> </a></td><td>WARBURG MICRO SYNDROME 1; WARBM1</td></tr><tr><td style="white-space:nowrap">OMIM:600132<a name="omim-OMIM.58600132"> </a></td><td>RETINITIS PIGMENTOSA 14; RP14</td></tr><tr><td style="white-space:nowrap">OMIM:600138<a name="omim-OMIM.58600138"> </a></td><td>RETINITIS PIGMENTOSA 11; RP11</td></tr><tr><td style="white-space:nowrap">OMIM:600143<a name="omim-OMIM.58600143"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8</td></tr><tr><td style="white-space:nowrap">OMIM:600334<a name="omim-OMIM.58600334"> </a></td><td>TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD</td></tr><tr><td style="white-space:nowrap">OMIM:600373<a name="omim-OMIM.58600373"> </a></td><td>CODAS SYNDROME</td></tr><tr><td style="white-space:nowrap">OMIM:600618<a name="omim-OMIM.58600618"> </a></td><td>ETS VARIANT GENE 6; ETV6</td></tr><tr><td style="white-space:nowrap">OMIM:600995<a name="omim-OMIM.58600995"> </a></td><td>NEPHROTIC SYNDROME, TYPE 2; NPHS2</td></tr><tr><td style="white-space:nowrap">OMIM:601088<a name="omim-OMIM.58601088"> </a></td><td>AYME-GRIPP SYNDROME; AYGRP</td></tr><tr><td style="white-space:nowrap">OMIM:601414<a name="omim-OMIM.58601414"> </a></td><td>RETINITIS PIGMENTOSA 18; RP18</td></tr><tr><td style="white-space:nowrap">OMIM:601419<a name="omim-OMIM.58601419"> </a></td><td>MYOPATHY, MYOFIBRILLAR, 1; MFM1</td></tr><tr><td style="white-space:nowrap">OMIM:601680<a name="omim-OMIM.58601680"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1</td></tr><tr><td style="white-space:nowrap">OMIM:601718<a name="omim-OMIM.58601718"> </a></td><td>RETINITIS PIGMENTOSA 19; RP19</td></tr><tr><td style="white-space:nowrap">OMIM:601780<a name="omim-OMIM.58601780"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6</td></tr><tr><td style="white-space:nowrap">OMIM:601815<a name="omim-OMIM.58601815"> </a></td><td>PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD</td></tr><tr><td style="white-space:nowrap">OMIM:601954<a name="omim-OMIM.58601954"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7</td></tr><tr><td style="white-space:nowrap">OMIM:602482<a name="omim-OMIM.58602482"> </a></td><td>AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3</td></tr><tr><td style="white-space:nowrap">OMIM:602579<a name="omim-OMIM.58602579"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B</td></tr><tr><td style="white-space:nowrap">OMIM:602772<a name="omim-OMIM.58602772"> </a></td><td>RETINITIS PIGMENTOSA 25; RP25</td></tr><tr><td style="white-space:nowrap">OMIM:603511<a name="omim-OMIM.58603511"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1</td></tr><tr><td style="white-space:nowrap">OMIM:603896<a name="omim-OMIM.58603896"> </a></td><td>LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM</td></tr><tr><td style="white-space:nowrap">OMIM:604004<a name="omim-OMIM.58604004"> </a></td><td>MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1</td></tr><tr><td style="white-space:nowrap">OMIM:604116<a name="omim-OMIM.58604116"> </a></td><td>CONE-ROD DYSTROPHY 3; CORD3</td></tr><tr><td style="white-space:nowrap">OMIM:604273<a name="omim-OMIM.58604273"> </a></td><td>MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1</td></tr><tr><td style="white-space:nowrap">OMIM:604286<a name="omim-OMIM.58604286"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4</td></tr><tr><td style="white-space:nowrap">OMIM:604317<a name="omim-OMIM.58604317"> </a></td><td>MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2</td></tr><tr><td style="white-space:nowrap">OMIM:604360<a name="omim-OMIM.58604360"> </a></td><td>SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11</td></tr><tr><td style="white-space:nowrap">OMIM:604387<a name="omim-OMIM.58604387"> </a></td><td>NEPHRONOPHTHISIS 3; NPHP3</td></tr><tr><td style="white-space:nowrap">OMIM:604537<a name="omim-OMIM.58604537"> </a></td><td>LEBER CONGENITAL AMAUROSIS 5; LCA5</td></tr><tr><td style="white-space:nowrap">OMIM:604592<a name="omim-OMIM.58604592"> </a></td><td>T CELL IMMUNE REGULATOR 1; TCIRG1</td></tr><tr><td style="white-space:nowrap">OMIM:605130<a name="omim-OMIM.58605130"> </a></td><td>WIEDEMANN-STEINER SYNDROME; WDSTS</td></tr><tr><td style="white-space:nowrap">OMIM:605355<a name="omim-OMIM.58605355"> </a></td><td>NEMALINE MYOPATHY 5; NEM5</td></tr><tr><td style="white-space:nowrap">OMIM:605407<a name="omim-OMIM.58605407"> </a></td><td>SEGAWA SYNDROME, AUTOSOMAL RECESSIVE</td></tr><tr><td style="white-space:nowrap">OMIM:605637<a name="omim-OMIM.58605637"> </a></td><td>MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP</td></tr><tr><td style="white-space:nowrap">OMIM:605670<a name="omim-OMIM.58605670"> </a></td><td>LATE-ONSET RETINAL DEGENERATION; LORD</td></tr><tr><td style="white-space:nowrap">OMIM:605820<a name="omim-OMIM.58605820"> </a></td><td>NONAKA MYOPATHY; NM</td></tr><tr><td style="white-space:nowrap">OMIM:605899<a name="omim-OMIM.58605899"> </a></td><td>GLYCINE ENCEPHALOPATHY; GCE</td></tr><tr><td style="white-space:nowrap">OMIM:606068<a name="omim-OMIM.58606068"> </a></td><td>RETINITIS PIGMENTOSA 28; RP28</td></tr><tr><td style="white-space:nowrap">OMIM:606170<a name="omim-OMIM.58606170"> </a></td><td>GENITOPATELLAR SYNDROME; GTPTS</td></tr><tr><td style="white-space:nowrap">OMIM:606232<a name="omim-OMIM.58606232"> </a></td><td>PHELAN-MCDERMID SYNDROME; PHMDS</td></tr><tr><td style="white-space:nowrap">OMIM:606777<a name="omim-OMIM.58606777"> </a></td><td>GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1</td></tr><tr><td style="white-space:nowrap">OMIM:606854<a name="omim-OMIM.58606854"> </a></td><td>POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP</td></tr><tr><td style="white-space:nowrap">OMIM:606966<a name="omim-OMIM.58606966"> </a></td><td>NEPHRONOPHTHISIS 4; NPHP4</td></tr><tr><td style="white-space:nowrap">OMIM:606996<a name="omim-OMIM.58606996"> </a></td><td>SENIOR-LOKEN SYNDROME 4; SLSN4</td></tr><tr><td style="white-space:nowrap">OMIM:607015<a name="omim-OMIM.58607015"> </a></td><td>HURLER-SCHEIE SYNDROME</td></tr><tr><td style="white-space:nowrap">OMIM:607155<a name="omim-OMIM.58607155"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5</td></tr><tr><td style="white-space:nowrap">OMIM:607196<a name="omim-OMIM.58607196"> </a></td><td>MICROCEPHALY, AMISH TYPE; MCPHA</td></tr><tr><td style="white-space:nowrap">OMIM:607225<a name="omim-OMIM.58607225"> </a></td><td>SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP</td></tr><tr><td style="white-space:nowrap">OMIM:607426<a name="omim-OMIM.58607426"> </a></td><td>COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1</td></tr><tr><td style="white-space:nowrap">OMIM:607432<a name="omim-OMIM.58607432"> </a></td><td>LISSENCEPHALY 1; LIS1</td></tr><tr><td style="white-space:nowrap">OMIM:607483<a name="omim-OMIM.58607483"> </a></td><td>THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2</td></tr><tr><td style="white-space:nowrap">OMIM:607595<a name="omim-OMIM.58607595"> </a></td><td>MOVED TO 175780</td></tr><tr><td style="white-space:nowrap">OMIM:607596<a name="omim-OMIM.58607596"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A</td></tr><tr><td style="white-space:nowrap">OMIM:607855<a name="omim-OMIM.58607855"> </a></td><td>MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A</td></tr><tr><td style="white-space:nowrap">OMIM:608027<a name="omim-OMIM.58608027"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3</td></tr><tr><td style="white-space:nowrap">OMIM:608091<a name="omim-OMIM.58608091"> </a></td><td>JOUBERT SYNDROME 2; JBTS2</td></tr><tr><td style="white-space:nowrap">OMIM:608099<a name="omim-OMIM.58608099"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3</td></tr><tr><td style="white-space:nowrap">OMIM:608133<a name="omim-OMIM.58608133"> </a></td><td>RETINITIS PIGMENTOSA 7; RP7</td></tr><tr><td style="white-space:nowrap">OMIM:608358<a name="omim-OMIM.58608358"> </a></td><td>MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA</td></tr><tr><td style="white-space:nowrap">OMIM:608380<a name="omim-OMIM.58608380"> </a></td><td>RETINITIS PIGMENTOSA 26; RP26</td></tr><tr><td style="white-space:nowrap">OMIM:608393<a name="omim-OMIM.58608393"> </a></td><td>MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6</td></tr><tr><td style="white-space:nowrap">OMIM:608415<a name="omim-OMIM.58608415"> </a></td><td>PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS</td></tr><tr><td style="white-space:nowrap">OMIM:608423<a name="omim-OMIM.58608423"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2</td></tr><tr><td style="white-space:nowrap">OMIM:608540<a name="omim-OMIM.58608540"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K</td></tr><tr><td style="white-space:nowrap">OMIM:608629<a name="omim-OMIM.58608629"> </a></td><td>JOUBERT SYNDROME 3; JBTS3</td></tr><tr><td style="white-space:nowrap">OMIM:608643<a name="omim-OMIM.58608643"> </a></td><td>AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY</td></tr><tr><td style="white-space:nowrap">OMIM:608716<a name="omim-OMIM.58608716"> </a></td><td>MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5</td></tr><tr><td style="white-space:nowrap">OMIM:608804<a name="omim-OMIM.58608804"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2</td></tr><tr><td style="white-space:nowrap">OMIM:608807<a name="omim-OMIM.58608807"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10</td></tr><tr><td style="white-space:nowrap">OMIM:609033<a name="omim-OMIM.58609033"> </a></td><td>POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1</td></tr><tr><td style="white-space:nowrap">OMIM:609056<a name="omim-OMIM.58609056"> </a></td><td>SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS</td></tr><tr><td style="white-space:nowrap">OMIM:609195<a name="omim-OMIM.58609195"> </a></td><td>SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26</td></tr><tr><td style="white-space:nowrap">OMIM:609200<a name="omim-OMIM.58609200"> </a></td><td>MYOPATHY, MYOFIBRILLAR, 3; MFM3</td></tr><tr><td style="white-space:nowrap">OMIM:609260<a name="omim-OMIM.58609260"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A</td></tr><tr><td style="white-space:nowrap">OMIM:609270<a name="omim-OMIM.58609270"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7</td></tr><tr><td style="white-space:nowrap">OMIM:609304<a name="omim-OMIM.58609304"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3</td></tr><tr><td style="white-space:nowrap">OMIM:609524<a name="omim-OMIM.58609524"> </a></td><td>MYOPATHY, MYOFIBRILLAR, 5; MFM5</td></tr><tr><td style="white-space:nowrap">OMIM:609560<a name="omim-OMIM.58609560"> </a></td><td>MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2</td></tr><tr><td style="white-space:nowrap">OMIM:609923<a name="omim-OMIM.58609923"> </a></td><td>RETINITIS PIGMENTOSA 31; RP31</td></tr><tr><td style="white-space:nowrap">OMIM:610019<a name="omim-OMIM.58610019"> </a></td><td>CATARACT 18; CTRCT18</td></tr><tr><td style="white-space:nowrap">OMIM:610031<a name="omim-OMIM.58610031"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7</td></tr><tr><td style="white-space:nowrap">OMIM:610127<a name="omim-OMIM.58610127"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10</td></tr><tr><td style="white-space:nowrap">OMIM:610181<a name="omim-OMIM.58610181"> </a></td><td>AICARDI-GOUTIERES SYNDROME 2; AGS2</td></tr><tr><td style="white-space:nowrap">OMIM:610188<a name="omim-OMIM.58610188"> </a></td><td>JOUBERT SYNDROME 5; JBTS5</td></tr><tr><td style="white-space:nowrap">OMIM:610217<a name="omim-OMIM.58610217"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B</td></tr><tr><td style="white-space:nowrap">OMIM:610329<a name="omim-OMIM.58610329"> </a></td><td>AICARDI-GOUTIERES SYNDROME 3; AGS3</td></tr><tr><td style="white-space:nowrap">OMIM:610333<a name="omim-OMIM.58610333"> </a></td><td>AICARDI-GOUTIERES SYNDROME 4; AGS4</td></tr><tr><td style="white-space:nowrap">OMIM:610359<a name="omim-OMIM.58610359"> </a></td><td>RETINITIS PIGMENTOSA 33; RP33</td></tr><tr><td style="white-space:nowrap">OMIM:610443<a name="omim-OMIM.58610443"> </a></td><td>KOOLEN-DE VRIES SYNDROME; KDVS</td></tr><tr><td style="white-space:nowrap">OMIM:610444<a name="omim-OMIM.58610444"> </a></td><td>NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3</td></tr><tr><td style="white-space:nowrap">OMIM:610489<a name="omim-OMIM.58610489"> </a></td><td>PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1</td></tr><tr><td style="white-space:nowrap">OMIM:610532<a name="omim-OMIM.58610532"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5</td></tr><tr><td style="white-space:nowrap">OMIM:610688<a name="omim-OMIM.58610688"> </a></td><td>JOUBERT SYNDROME 6; JBTS6</td></tr><tr><td style="white-space:nowrap">OMIM:610725<a name="omim-OMIM.58610725"> </a></td><td>NEPHROTIC SYNDROME, TYPE 3; NPHS3</td></tr><tr><td style="white-space:nowrap">OMIM:610951<a name="omim-OMIM.58610951"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7</td></tr><tr><td style="white-space:nowrap">OMIM:611091<a name="omim-OMIM.58611091"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5</td></tr><tr><td style="white-space:nowrap">OMIM:611302<a name="omim-OMIM.58611302"> </a></td><td>SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2</td></tr><tr><td style="white-space:nowrap">OMIM:611307<a name="omim-OMIM.58611307"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12</td></tr><tr><td style="white-space:nowrap">OMIM:611560<a name="omim-OMIM.58611560"> </a></td><td>JOUBERT SYNDROME 7; JBTS7</td></tr><tr><td style="white-space:nowrap">OMIM:611603<a name="omim-OMIM.58611603"> </a></td><td>LISSENCEPHALY 3; LIS3</td></tr><tr><td style="white-space:nowrap">OMIM:611705<a name="omim-OMIM.58611705"> </a></td><td>SALIH MYOPATHY; SALMY</td></tr><tr><td style="white-space:nowrap">OMIM:611721<a name="omim-OMIM.58611721"> </a></td><td>COMBINED SAPOSIN DEFICIENCY</td></tr><tr><td style="white-space:nowrap">OMIM:611726<a name="omim-OMIM.58611726"> </a></td><td>EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3</td></tr><tr><td style="white-space:nowrap">OMIM:611755<a name="omim-OMIM.58611755"> </a></td><td>LEBER CONGENITAL AMAUROSIS 10; LCA10</td></tr><tr><td style="white-space:nowrap">OMIM:612015<a name="omim-OMIM.58612015"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N</td></tr><tr><td style="white-space:nowrap">OMIM:612095<a name="omim-OMIM.58612095"> </a></td><td>RETINITIS PIGMENTOSA 41; RP41</td></tr><tr><td style="white-space:nowrap">OMIM:612126<a name="omim-OMIM.58612126"> </a></td><td>GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2</td></tr><tr><td style="white-space:nowrap">OMIM:612285<a name="omim-OMIM.58612285"> </a></td><td>JOUBERT SYNDROME 9; JBTS9</td></tr><tr><td style="white-space:nowrap">OMIM:612337<a name="omim-OMIM.58612337"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22</td></tr><tr><td style="white-space:nowrap">OMIM:612370<a name="omim-OMIM.58612370"> </a></td><td>HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5</td></tr><tr><td style="white-space:nowrap">OMIM:612438<a name="omim-OMIM.58612438"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6</td></tr><tr><td style="white-space:nowrap">OMIM:612528<a name="omim-OMIM.58612528"> </a></td><td>DIAMOND-BLACKFAN ANEMIA 5; DBA5</td></tr><tr><td style="white-space:nowrap">OMIM:612621<a name="omim-OMIM.58612621"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5</td></tr><tr><td style="white-space:nowrap">OMIM:612712<a name="omim-OMIM.58612712"> </a></td><td>LEBER CONGENITAL AMAUROSIS 13; LCA13</td></tr><tr><td style="white-space:nowrap">OMIM:612716<a name="omim-OMIM.58612716"> </a></td><td>DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY</td></tr><tr><td style="white-space:nowrap">OMIM:612780<a name="omim-OMIM.58612780"> </a></td><td>SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES</td></tr><tr><td style="white-space:nowrap">OMIM:612936<a name="omim-OMIM.58612936"> </a></td><td>SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50</td></tr><tr><td style="white-space:nowrap">OMIM:612943<a name="omim-OMIM.58612943"> </a></td><td>RETINITIS PIGMENTOSA 42; RP42</td></tr><tr><td style="white-space:nowrap">OMIM:612951<a name="omim-OMIM.58612951"> </a></td><td>LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY</td></tr><tr><td style="white-space:nowrap">OMIM:613065<a name="omim-OMIM.58613065"> </a></td><td>LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL</td></tr><tr><td style="white-space:nowrap">OMIM:613091<a name="omim-OMIM.58613091"> </a></td><td>SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3</td></tr><tr><td style="white-space:nowrap">OMIM:613155<a name="omim-OMIM.58613155"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1</td></tr><tr><td style="white-space:nowrap">OMIM:613156<a name="omim-OMIM.58613156"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2</td></tr><tr><td style="white-space:nowrap">OMIM:613158<a name="omim-OMIM.58613158"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2</td></tr><tr><td style="white-space:nowrap">OMIM:613192<a name="omim-OMIM.58613192"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13</td></tr><tr><td style="white-space:nowrap">OMIM:613205<a name="omim-OMIM.58613205"> </a></td><td>MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED</td></tr><tr><td style="white-space:nowrap">OMIM:613216<a name="omim-OMIM.58613216"> </a></td><td>NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C</td></tr><tr><td style="white-space:nowrap">OMIM:613217<a name="omim-OMIM.58613217"> </a></td><td>DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5</td></tr><tr><td style="white-space:nowrap">OMIM:613402<a name="omim-OMIM.58613402"> </a></td><td>MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ</td></tr><tr><td style="white-space:nowrap">OMIM:613428<a name="omim-OMIM.58613428"> </a></td><td>RETINITIS PIGMENTOSA 54; RP54</td></tr><tr><td style="white-space:nowrap">OMIM:613454<a name="omim-OMIM.58613454"> </a></td><td>RETT SYNDROME, CONGENITAL VARIANT</td></tr><tr><td style="white-space:nowrap">OMIM:613550<a name="omim-OMIM.58613550"> </a></td><td>NEPHRONOPHTHISIS 11; NPHP11</td></tr><tr><td style="white-space:nowrap">OMIM:613561<a name="omim-OMIM.58613561"> </a></td><td>MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2</td></tr><tr><td style="white-space:nowrap">OMIM:613587<a name="omim-OMIM.58613587"> </a></td><td>OCCULT MACULAR DYSTROPHY; OCMD</td></tr><tr><td style="white-space:nowrap">OMIM:613612<a name="omim-OMIM.58613612"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I</td></tr><tr><td style="white-space:nowrap">OMIM:613660<a name="omim-OMIM.58613660"> </a></td><td>CONE-ROD DYSTROPHY 15; CORD15</td></tr><tr><td style="white-space:nowrap">OMIM:613668<a name="omim-OMIM.58613668"> </a></td><td>MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY</td></tr><tr><td style="white-space:nowrap">OMIM:613680<a name="omim-OMIM.58613680"> </a></td><td>BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS</td></tr><tr><td style="white-space:nowrap">OMIM:613684<a name="omim-OMIM.58613684"> </a></td><td>RUBINSTEIN-TAYBI SYNDROME 2; RSTS2</td></tr><tr><td style="white-space:nowrap">OMIM:613690<a name="omim-OMIM.58613690"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7</td></tr><tr><td style="white-space:nowrap">OMIM:613706<a name="omim-OMIM.58613706"> </a></td><td>NOONAN SYNDROME 7; NS7</td></tr><tr><td style="white-space:nowrap">OMIM:613722<a name="omim-OMIM.58613722"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12</td></tr><tr><td style="white-space:nowrap">OMIM:613731<a name="omim-OMIM.58613731"> </a></td><td>RETINITIS PIGMENTOSA 4; RP4</td></tr><tr><td style="white-space:nowrap">OMIM:613744<a name="omim-OMIM.58613744"> </a></td><td>SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51</td></tr><tr><td style="white-space:nowrap">OMIM:613750<a name="omim-OMIM.58613750"> </a></td><td>RETINITIS PIGMENTOSA 27; RP27</td></tr><tr><td style="white-space:nowrap">OMIM:613756<a name="omim-OMIM.58613756"> </a></td><td>RETINITIS PIGMENTOSA 49; RP49</td></tr><tr><td style="white-space:nowrap">OMIM:613767<a name="omim-OMIM.58613767"> </a></td><td>RETINITIS PIGMENTOSA 45; RP45</td></tr><tr><td style="white-space:nowrap">OMIM:613794<a name="omim-OMIM.58613794"> </a></td><td>RETINITIS PIGMENTOSA 20; RP20</td></tr><tr><td style="white-space:nowrap">OMIM:613809<a name="omim-OMIM.58613809"> </a></td><td>RETINITIS PIGMENTOSA 39; RP39</td></tr><tr><td style="white-space:nowrap">OMIM:613810<a name="omim-OMIM.58613810"> </a></td><td>RETINITIS PIGMENTOSA 43; RP43</td></tr><tr><td style="white-space:nowrap">OMIM:613811<a name="omim-OMIM.58613811"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D</td></tr><tr><td style="white-space:nowrap">OMIM:613820<a name="omim-OMIM.58613820"> </a></td><td>NEPHRONOPHTHISIS 12; NPHP12</td></tr><tr><td style="white-space:nowrap">OMIM:613835<a name="omim-OMIM.58613835"> </a></td><td>LEBER CONGENITAL AMAUROSIS 8; LCA8</td></tr><tr><td style="white-space:nowrap">OMIM:613861<a name="omim-OMIM.58613861"> </a></td><td>RETINITIS PIGMENTOSA 59; RP59</td></tr><tr><td style="white-space:nowrap">OMIM:613862<a name="omim-OMIM.58613862"> </a></td><td>RETINITIS PIGMENTOSA 38; RP38</td></tr><tr><td style="white-space:nowrap">OMIM:614034<a name="omim-OMIM.58614034"> </a></td><td>HEME OXYGENASE 1 DEFICIENCY; HMOX1D</td></tr><tr><td style="white-space:nowrap">OMIM:614065<a name="omim-OMIM.58614065"> </a></td><td>MYOPATHY, DISTAL, 4; MPD4</td></tr><tr><td style="white-space:nowrap">OMIM:614173<a name="omim-OMIM.58614173"> </a></td><td>JOUBERT SYNDROME 13; JBTS13</td></tr><tr><td style="white-space:nowrap">OMIM:614180<a name="omim-OMIM.58614180"> </a></td><td>RETINITIS PIGMENTOSA 61; RP61</td></tr><tr><td style="white-space:nowrap">OMIM:614181<a name="omim-OMIM.58614181"> </a></td><td>RETINITIS PIGMENTOSA 62; RP62</td></tr><tr><td style="white-space:nowrap">OMIM:614199<a name="omim-OMIM.58614199"> </a></td><td>NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5</td></tr><tr><td style="white-space:nowrap">OMIM:614202<a name="omim-OMIM.58614202"> </a></td><td>RAFIQ SYNDROME; RAFQS</td></tr><tr><td style="white-space:nowrap">OMIM:614225<a name="omim-OMIM.58614225"> </a></td><td>WARBURG MICRO SYNDROME 2; WARBM2</td></tr><tr><td style="white-space:nowrap">OMIM:614254<a name="omim-OMIM.58614254"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD</td></tr><tr><td style="white-space:nowrap">OMIM:614255<a name="omim-OMIM.58614255"> </a></td><td>NESCAV SYNDROME; NESCAVS</td></tr><tr><td style="white-space:nowrap">OMIM:614299<a name="omim-OMIM.58614299"> </a></td><td>MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2</td></tr><tr><td style="white-space:nowrap">OMIM:614381<a name="omim-OMIM.58614381"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8</td></tr><tr><td style="white-space:nowrap">OMIM:614424<a name="omim-OMIM.58614424"> </a></td><td>JOUBERT SYNDROME 14; JBTS14</td></tr><tr><td style="white-space:nowrap">OMIM:614500<a name="omim-OMIM.58614500"> </a></td><td>CONE-ROD DYSTROPHY 16; CORD16</td></tr><tr><td style="white-space:nowrap">OMIM:614557<a name="omim-OMIM.58614557"> </a></td><td>EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2</td></tr><tr><td style="white-space:nowrap">OMIM:614607<a name="omim-OMIM.58614607"> </a></td><td>COFFIN-SIRIS SYNDROME 2; CSS2</td></tr><tr><td style="white-space:nowrap">OMIM:614615<a name="omim-OMIM.58614615"> </a></td><td>JOUBERT SYNDROME 17; JBTS17</td></tr><tr><td style="white-space:nowrap">OMIM:614669<a name="omim-OMIM.58614669"> </a></td><td>AURICULOCONDYLAR SYNDROME 2; ARCND2</td></tr><tr><td style="white-space:nowrap">OMIM:614678<a name="omim-OMIM.58614678"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B</td></tr><tr><td style="white-space:nowrap">OMIM:614744<a name="omim-OMIM.58614744"> </a></td><td>FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3</td></tr><tr><td style="white-space:nowrap">OMIM:614753<a name="omim-OMIM.58614753"> </a></td><td>SOTOS SYNDROME 2; SOTOS2</td></tr><tr><td style="white-space:nowrap">OMIM:614831<a name="omim-OMIM.58614831"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13</td></tr><tr><td style="white-space:nowrap">OMIM:614833<a name="omim-OMIM.58614833"> </a></td><td>MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP</td></tr><tr><td style="white-space:nowrap">OMIM:614876<a name="omim-OMIM.58614876"> </a></td><td>PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A</td></tr><tr><td style="white-space:nowrap">OMIM:614877<a name="omim-OMIM.58614877"> </a></td><td>PEROXISOME BIOGENESIS DISORDER 8B; PBD8B</td></tr><tr><td style="white-space:nowrap">OMIM:614932<a name="omim-OMIM.58614932"> </a></td><td>COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13</td></tr><tr><td style="white-space:nowrap">OMIM:614945<a name="omim-OMIM.58614945"> </a></td><td>DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B</td></tr><tr><td style="white-space:nowrap">OMIM:615030<a name="omim-OMIM.58615030"> </a></td><td>SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56</td></tr><tr><td style="white-space:nowrap">OMIM:615031<a name="omim-OMIM.58615031"> </a></td><td>SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49</td></tr><tr><td style="white-space:nowrap">OMIM:615065<a name="omim-OMIM.58615065"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D</td></tr><tr><td style="white-space:nowrap">OMIM:615071<a name="omim-OMIM.58615071"> </a></td><td>ALAZAMI SYNDROME; ALAZS</td></tr><tr><td style="white-space:nowrap">OMIM:615095<a name="omim-OMIM.58615095"> </a></td><td>MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10</td></tr><tr><td style="white-space:nowrap">OMIM:615181<a name="omim-OMIM.58615181"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11</td></tr><tr><td style="white-space:nowrap">OMIM:615190<a name="omim-OMIM.58615190"> </a></td><td>DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5</td></tr><tr><td style="white-space:nowrap">OMIM:615191<a name="omim-OMIM.58615191"> </a></td><td>LISSENCEPHALY 5; LIS5</td></tr><tr><td style="white-space:nowrap">OMIM:615268<a name="omim-OMIM.58615268"> </a></td><td>CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4</td></tr><tr><td style="white-space:nowrap">OMIM:615286<a name="omim-OMIM.58615286"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36</td></tr><tr><td style="white-space:nowrap">OMIM:615352<a name="omim-OMIM.58615352"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14</td></tr><tr><td style="white-space:nowrap">OMIM:615411<a name="omim-OMIM.58615411"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3</td></tr><tr><td style="white-space:nowrap">OMIM:615412<a name="omim-OMIM.58615412"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4</td></tr><tr><td style="white-space:nowrap">OMIM:615419<a name="omim-OMIM.58615419"> </a></td><td>HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1</td></tr><tr><td style="white-space:nowrap">OMIM:615471<a name="omim-OMIM.58615471"> </a></td><td>MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13</td></tr><tr><td style="white-space:nowrap">OMIM:615476<a name="omim-OMIM.58615476"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18</td></tr><tr><td style="white-space:nowrap">OMIM:615485<a name="omim-OMIM.58615485"> </a></td><td>BAINBRIDGE-ROPERS SYNDROME; BRPS</td></tr><tr><td style="white-space:nowrap">OMIM:615502<a name="omim-OMIM.58615502"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21</td></tr><tr><td style="white-space:nowrap">OMIM:615546<a name="omim-OMIM.58615546"> </a></td><td>VAN MALDERGEM SYNDROME 2; VMLDS2</td></tr><tr><td style="white-space:nowrap">OMIM:615574<a name="omim-OMIM.58615574"> </a></td><td>ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD</td></tr><tr><td style="white-space:nowrap">OMIM:615681<a name="omim-OMIM.58615681"> </a></td><td>SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62</td></tr><tr><td style="white-space:nowrap">OMIM:615715<a name="omim-OMIM.58615715"> </a></td><td>BONE MARROW FAILURE SYNDROME 2; BMFS2</td></tr><tr><td style="white-space:nowrap">OMIM:615716<a name="omim-OMIM.58615716"> </a></td><td>HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4</td></tr><tr><td style="white-space:nowrap">OMIM:615760<a name="omim-OMIM.58615760"> </a></td><td>MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA</td></tr><tr><td style="white-space:nowrap">OMIM:615763<a name="omim-OMIM.58615763"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5</td></tr><tr><td style="white-space:nowrap">OMIM:615809<a name="omim-OMIM.58615809"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9</td></tr><tr><td style="white-space:nowrap">OMIM:615829<a name="omim-OMIM.58615829"> </a></td><td>XIA-GIBBS SYNDROME; XIGIS</td></tr><tr><td style="white-space:nowrap">OMIM:615834<a name="omim-OMIM.58615834"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26</td></tr><tr><td style="white-space:nowrap">OMIM:615846<a name="omim-OMIM.58615846"> </a></td><td>AICARDI-GOUTIERES SYNDROME 7; AGS7</td></tr><tr><td style="white-space:nowrap">OMIM:615866<a name="omim-OMIM.58615866"> </a></td><td>COFFIN-SIRIS SYNDROME 9; CSS9</td></tr><tr><td style="white-space:nowrap">OMIM:615909<a name="omim-OMIM.58615909"> </a></td><td>DIAMOND-BLACKFAN ANEMIA 13; DBA13</td></tr><tr><td style="white-space:nowrap">OMIM:615948<a name="omim-OMIM.58615948"> </a></td><td>OROFACIODIGITAL SYNDROME XIV; OFD14</td></tr><tr><td style="white-space:nowrap">OMIM:615959<a name="omim-OMIM.58615959"> </a></td><td>MYOPATHY, CENTRONUCLEAR, 5; CNM5</td></tr><tr><td style="white-space:nowrap">OMIM:615960<a name="omim-OMIM.58615960"> </a></td><td>PORETTI-BOLTSHAUSER SYNDROME; PTBHS</td></tr><tr><td style="white-space:nowrap">OMIM:615973<a name="omim-OMIM.58615973"> </a></td><td>CONE-ROD DYSTROPHY 20; CORD20</td></tr><tr><td style="white-space:nowrap">OMIM:615981<a name="omim-OMIM.58615981"> </a></td><td>BARDET-BIEDL SYNDROME 2; BBS2</td></tr><tr><td style="white-space:nowrap">OMIM:615982<a name="omim-OMIM.58615982"> </a></td><td>BARDET-BIEDL SYNDROME 4; BBS4</td></tr><tr><td style="white-space:nowrap">OMIM:615983<a name="omim-OMIM.58615983"> </a></td><td>BARDET-BIEDL SYNDROME 5; BBS5</td></tr><tr><td style="white-space:nowrap">OMIM:615993<a name="omim-OMIM.58615993"> </a></td><td>BARDET-BIEDL SYNDROME 16; BBS16</td></tr><tr><td style="white-space:nowrap">OMIM:616051<a name="omim-OMIM.58616051"> </a></td><td>MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13</td></tr><tr><td style="white-space:nowrap">OMIM:616056<a name="omim-OMIM.58616056"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26</td></tr><tr><td style="white-space:nowrap">OMIM:616081<a name="omim-OMIM.58616081"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C</td></tr><tr><td style="white-space:nowrap">OMIM:616094<a name="omim-OMIM.58616094"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12</td></tr><tr><td style="white-space:nowrap">OMIM:616127<a name="omim-OMIM.58616127"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17</td></tr><tr><td style="white-space:nowrap">OMIM:616140<a name="omim-OMIM.58616140"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9</td></tr><tr><td style="white-space:nowrap">OMIM:616155<a name="omim-OMIM.58616155"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S</td></tr><tr><td style="white-space:nowrap">OMIM:616171<a name="omim-OMIM.58616171"> </a></td><td>MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2</td></tr><tr><td style="white-space:nowrap">OMIM:616199<a name="omim-OMIM.58616199"> </a></td><td>POLYGLUCOSAN BODY MYOPATHY 2; PGBM2</td></tr><tr><td style="white-space:nowrap">OMIM:616211<a name="omim-OMIM.58616211"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28</td></tr><tr><td style="white-space:nowrap">OMIM:616263<a name="omim-OMIM.58616263"> </a></td><td>NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD</td></tr><tr><td style="white-space:nowrap">OMIM:616266<a name="omim-OMIM.58616266"> </a></td><td>CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD</td></tr><tr><td style="white-space:nowrap">OMIM:616271<a name="omim-OMIM.58616271"> </a></td><td>3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7</td></tr><tr><td style="white-space:nowrap">OMIM:616277<a name="omim-OMIM.58616277"> </a></td><td>MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D</td></tr><tr><td style="white-space:nowrap">OMIM:616281<a name="omim-OMIM.58616281"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM</td></tr><tr><td style="white-space:nowrap">OMIM:616321<a name="omim-OMIM.58616321"> </a></td><td>MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A</td></tr><tr><td style="white-space:nowrap">OMIM:616354<a name="omim-OMIM.58616354"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20</td></tr><tr><td style="white-space:nowrap">OMIM:616394<a name="omim-OMIM.58616394"> </a></td><td>RETINITIS PIGMENTOSA 71; RP71</td></tr><tr><td style="white-space:nowrap">OMIM:616420<a name="omim-OMIM.58616420"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10</td></tr><tr><td style="white-space:nowrap">OMIM:616421<a name="omim-OMIM.58616421"> </a></td><td>MYOCLONIC-ATONIC EPILEPSY; MAE</td></tr><tr><td style="white-space:nowrap">OMIM:616471<a name="omim-OMIM.58616471"> </a></td><td>BETHLEM MYOPATHY 2; BTHLM2</td></tr><tr><td style="white-space:nowrap">OMIM:616490<a name="omim-OMIM.58616490"> </a></td><td>JOUBERT SYNDROME 23; JBTS23</td></tr><tr><td style="white-space:nowrap">OMIM:616531<a name="omim-OMIM.58616531"> </a></td><td>POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA</td></tr><tr><td style="white-space:nowrap">OMIM:616544<a name="omim-OMIM.58616544"> </a></td><td>RETINITIS PIGMENTOSA 73; RP73</td></tr><tr><td style="white-space:nowrap">OMIM:616562<a name="omim-OMIM.58616562"> </a></td><td>RETINITIS PIGMENTOSA 74; RP74</td></tr><tr><td style="white-space:nowrap">OMIM:616564<a name="omim-OMIM.58616564"> </a></td><td>NOONAN SYNDROME 10; NS10</td></tr><tr><td style="white-space:nowrap">OMIM:616632<a name="omim-OMIM.58616632"> </a></td><td>SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS</td></tr><tr><td style="white-space:nowrap">OMIM:616647<a name="omim-OMIM.58616647"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35</td></tr><tr><td style="white-space:nowrap">OMIM:616649<a name="omim-OMIM.58616649"> </a></td><td>SPHEROCYTOSIS, TYPE 2; SPH2</td></tr><tr><td style="white-space:nowrap">OMIM:616651<a name="omim-OMIM.58616651"> </a></td><td>ROIFMAN SYNDROME; RFMN</td></tr><tr><td style="white-space:nowrap">OMIM:616654<a name="omim-OMIM.58616654"> </a></td><td>JOUBERT SYNDROME 24; JBTS24</td></tr><tr><td style="white-space:nowrap">OMIM:616657<a name="omim-OMIM.58616657"> </a></td><td>SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM</td></tr><tr><td style="white-space:nowrap">OMIM:616668<a name="omim-OMIM.58616668"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X</td></tr><tr><td style="white-space:nowrap">OMIM:616683<a name="omim-OMIM.58616683"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12</td></tr><tr><td style="white-space:nowrap">OMIM:616721<a name="omim-OMIM.58616721"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N</td></tr><tr><td style="white-space:nowrap">OMIM:616732<a name="omim-OMIM.58616732"> </a></td><td>OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10</td></tr><tr><td style="white-space:nowrap">OMIM:616738<a name="omim-OMIM.58616738"> </a></td><td>RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2</td></tr><tr><td style="white-space:nowrap">OMIM:616740<a name="omim-OMIM.58616740"> </a></td><td>IMMUNODEFICIENCY 46; IMD46</td></tr><tr><td style="white-space:nowrap">OMIM:616789<a name="omim-OMIM.58616789"> </a></td><td>MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD</td></tr><tr><td style="white-space:nowrap">OMIM:616801<a name="omim-OMIM.58616801"> </a></td><td>HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2</td></tr><tr><td style="white-space:nowrap">OMIM:616875<a name="omim-OMIM.58616875"> </a></td><td>CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR</td></tr><tr><td style="white-space:nowrap">OMIM:616892<a name="omim-OMIM.58616892"> </a></td><td>NEPHROTIC SYNDROME, TYPE 12; NPHS12</td></tr><tr><td style="white-space:nowrap">OMIM:616900<a name="omim-OMIM.58616900"> </a></td><td>HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3</td></tr><tr><td style="white-space:nowrap">OMIM:616973<a name="omim-OMIM.58616973"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42</td></tr><tr><td style="white-space:nowrap">OMIM:617011<a name="omim-OMIM.58617011"> </a></td><td>MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR</td></tr><tr><td style="white-space:nowrap">OMIM:617013<a name="omim-OMIM.58617013"> </a></td><td>HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2</td></tr><tr><td style="white-space:nowrap">OMIM:617047<a name="omim-OMIM.58617047"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26</td></tr><tr><td style="white-space:nowrap">OMIM:617052<a name="omim-OMIM.58617052"> </a></td><td>BONE MARROW FAILURE SYNDROME 3; BMFS3</td></tr><tr><td style="white-space:nowrap">OMIM:617053<a name="omim-OMIM.58617053"> </a></td><td>MIRAGE SYNDROME; MIRAGE</td></tr><tr><td style="white-space:nowrap">OMIM:617093<a name="omim-OMIM.58617093"> </a></td><td>GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH</td></tr><tr><td style="white-space:nowrap">OMIM:617106<a name="omim-OMIM.58617106"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42</td></tr><tr><td style="white-space:nowrap">OMIM:617120<a name="omim-OMIM.58617120"> </a></td><td>JOUBERT SYNDROME 27; JBTS27</td></tr><tr><td style="white-space:nowrap">OMIM:617121<a name="omim-OMIM.58617121"> </a></td><td>JOUBERT SYNDROME 28; JBTS28</td></tr><tr><td style="white-space:nowrap">OMIM:617123<a name="omim-OMIM.58617123"> </a></td><td>RETINITIS PIGMENTOSA 76; RP76</td></tr><tr><td style="white-space:nowrap">OMIM:617137<a name="omim-OMIM.58617137"> </a></td><td>FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2</td></tr><tr><td style="white-space:nowrap">OMIM:617146<a name="omim-OMIM.58617146"> </a></td><td>ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT</td></tr><tr><td style="white-space:nowrap">OMIM:617183<a name="omim-OMIM.58617183"> </a></td><td>HAREL-YOON SYNDROME; HAYOS</td></tr><tr><td style="white-space:nowrap">OMIM:617193<a name="omim-OMIM.58617193"> </a></td><td>ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT</td></tr><tr><td style="white-space:nowrap">OMIM:617222<a name="omim-OMIM.58617222"> </a></td><td>SUDDEN CARDIAC FAILURE, INFANTILE; SCFI</td></tr><tr><td style="white-space:nowrap">OMIM:617276<a name="omim-OMIM.58617276"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48</td></tr><tr><td style="white-space:nowrap">OMIM:617330<a name="omim-OMIM.58617330"> </a></td><td>HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS</td></tr><tr><td style="white-space:nowrap">OMIM:617350<a name="omim-OMIM.58617350"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52</td></tr><tr><td style="white-space:nowrap">OMIM:617397<a name="omim-OMIM.58617397"> </a></td><td>PSEUDO-TORCH SYNDROME 2; PTORCH2</td></tr><tr><td style="white-space:nowrap">OMIM:617433<a name="omim-OMIM.58617433"> </a></td><td>RETINITIS PIGMENTOSA 78; RP78</td></tr><tr><td style="white-space:nowrap">OMIM:617443<a name="omim-OMIM.58617443"> </a></td><td>BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21</td></tr><tr><td style="white-space:nowrap">OMIM:617460<a name="omim-OMIM.58617460"> </a></td><td>RETINITIS PIGMENTOSA 79; RP79</td></tr><tr><td style="white-space:nowrap">OMIM:617481<a name="omim-OMIM.58617481"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA</td></tr><tr><td style="white-space:nowrap">OMIM:617537<a name="omim-OMIM.58617537"> </a></td><td>RAHMAN SYNDROME; RMNS</td></tr><tr><td style="white-space:nowrap">OMIM:617547<a name="omim-OMIM.58617547"> </a></td><td>RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS</td></tr><tr><td style="white-space:nowrap">OMIM:617622<a name="omim-OMIM.58617622"> </a></td><td>JOUBERT SYNDROME 30; JBTS30</td></tr><tr><td style="white-space:nowrap">OMIM:617675<a name="omim-OMIM.58617675"> </a></td><td>MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT</td></tr><tr><td style="white-space:nowrap">OMIM:617681<a name="omim-OMIM.58617681"> </a></td><td>BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2</td></tr><tr><td style="white-space:nowrap">OMIM:617694<a name="omim-OMIM.58617694"> </a></td><td>AL KAISSI SYNDROME; ALKAS</td></tr><tr><td style="white-space:nowrap">OMIM:617781<a name="omim-OMIM.58617781"> </a></td><td>RETINITIS PIGMENTOSA 80; RP80</td></tr><tr><td style="white-space:nowrap">OMIM:617805<a name="omim-OMIM.58617805"> </a></td><td>RENAL HYPODYSPLASIA/APLASIA 3; RHDA3</td></tr><tr><td style="white-space:nowrap">OMIM:617807<a name="omim-OMIM.58617807"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW</td></tr><tr><td style="white-space:nowrap">OMIM:617829<a name="omim-OMIM.58617829"> </a></td><td>EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2</td></tr><tr><td style="white-space:nowrap">OMIM:617873<a name="omim-OMIM.58617873"> </a></td><td>COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35</td></tr><tr><td style="white-space:nowrap">OMIM:617948<a name="omim-OMIM.58617948"> </a></td><td>ELLIPTOCYTOSIS 3; EL3</td></tr><tr><td style="white-space:nowrap">OMIM:617954<a name="omim-OMIM.58617954"> </a></td><td>MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6</td></tr><tr><td style="white-space:nowrap">OMIM:618056<a name="omim-OMIM.58618056"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS</td></tr><tr><td style="white-space:nowrap">OMIM:618088<a name="omim-OMIM.58618088"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS</td></tr><tr><td style="white-space:nowrap">OMIM:618129<a name="omim-OMIM.58618129"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4</td></tr><tr><td style="white-space:nowrap">OMIM:618138<a name="omim-OMIM.58618138"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23</td></tr><tr><td style="white-space:nowrap">OMIM:618174<a name="omim-OMIM.58618174"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9</td></tr><tr><td style="white-space:nowrap">OMIM:618225<a name="omim-OMIM.58618225"> </a></td><td>MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4</td></tr><tr><td style="white-space:nowrap">OMIM:618273<a name="omim-OMIM.58618273"> </a></td><td>MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM</td></tr><tr><td style="white-space:nowrap">OMIM:618316<a name="omim-OMIM.58618316"> </a></td><td>INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF</td></tr><tr><td style="white-space:nowrap">OMIM:618325<a name="omim-OMIM.58618325"> </a></td><td>LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9</td></tr><tr><td style="white-space:nowrap">OMIM:618404<a name="omim-OMIM.58618404"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18</td></tr><tr><td style="white-space:nowrap">OMIM:618512<a name="omim-OMIM.58618512"> </a></td><td>O\'DONNELL-LURIA-RODAN SYNDROME; ODLURO</td></tr><tr><td style="white-space:nowrap">OMIM:614921<a name="omim-OMIM.58614921"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T</td></tr></table></div>
  </text>
  <url value="https://omim.org/"/>
  <version value="0.2.0"/>
  <name value="OMIM"/>
  <title value="Online Mendelian Inheritance in Man"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2022-12-09T17:30:30+00:00"/>
  <publisher value="NCPI FHIR Working Group"/>
  <contact>
    <name value="NCPI FHIR Working Group"/>
    <telecom>
      <system value="url"/>
      <value value="https://github.com/nih-ncpi"/>
    </telecom>
  </contact>
  <contact>
    <name value="Meen Chul Kim"/>
    <telecom>
      <system value="email"/>
      <value value="meenchul@d3b.center"/>
      <use value="work"/>
    </telecom>
  </contact>
  <description
               value="An online database that describes the function and phenotypes associated with human genes"/>
  <caseSensitive value="true"/>
  <content value="fragment"/>
  <count value="497"/>
  <concept>
    <code value="OMIM:613801"/>
    <display value="Retinitis pigmentosa-40"/>
  </concept>
  <concept>
    <code value="OMIM:213300"/>
    <display value="Joubert syndrome 1"/>
  </concept>
  <concept>
    <code value="OMIM:615780"/>
    <display value="Retinitis pigmentosa 69"/>
  </concept>
  <concept>
    <code value="OMIM:613826"/>
    <display value="Leber congenital amaurosis 6"/>
  </concept>
  <concept>
    <code value="OMIM:310200"/>
    <display value="Duchenne muscular dystrophy"/>
  </concept>
  <concept>
    <code value="OMIM:617194"/>
    <display value="Lethal congenital contracture syndrome 11"/>
  </concept>
  <concept>
    <code value="OMIM:105400"/>
    <display value="AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1"/>
  </concept>
  <concept>
    <code value="OMIM:108120"/>
    <display value="ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A"/>
  </concept>
  <concept>
    <code value="OMIM:114300"/>
    <display value="ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3"/>
  </concept>
  <concept>
    <code value="OMIM:115195"/>
    <display value="CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2"/>
  </concept>
  <concept>
    <code value="OMIM:115196"/>
    <display value="CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3"/>
  </concept>
  <concept>
    <code value="OMIM:115197"/>
    <display value="CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4"/>
  </concept>
  <concept>
    <code value="OMIM:115200"/>
    <display value="CARDIOMYOPATHY, DILATED, 1A; CMD1A"/>
  </concept>
  <concept>
    <code value="OMIM:117000"/>
    <display value="CENTRAL CORE DISEASE OF MUSCLE; CCD"/>
  </concept>
  <concept>
    <code value="OMIM:117360"/>
    <display value="SPINOCEREBELLAR ATAXIA 29; SCA29"/>
  </concept>
  <concept>
    <code value="OMIM:119530"/>
    <display value="OROFACIAL CLEFT 1; OFC1"/>
  </concept>
  <concept>
    <code value="OMIM:122470"/>
    <display value="CORNELIA DE LANGE SYNDROME 1; CDLS1"/>
  </concept>
  <concept>
    <code value="OMIM:130600"/>
    <display value="ELLIPTOCYTOSIS 2; EL2"/>
  </concept>
  <concept>
    <code value="OMIM:135900"/>
    <display value="COFFIN-SIRIS SYNDROME 1; CSS1"/>
  </concept>
  <concept>
    <code value="OMIM:136140"/>
    <display value="FLOATING-HARBOR SYNDROME; FLHS"/>
  </concept>
  <concept>
    <code value="OMIM:137920"/>
    <display value="RENAL CYSTS AND DIABETES SYNDROME; RCAD"/>
  </concept>
  <concept>
    <code value="OMIM:139090"/>
    <display value="GRAY PLATELET SYNDROME; GPS"/>
  </concept>
  <concept>
    <code value="OMIM:139210"/>
    <display value="MYHRE SYNDROME; MYHRS"/>
  </concept>
  <concept>
    <code value="OMIM:143095"/>
    <display
             value="SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD"/>
  </concept>
  <concept>
    <code value="OMIM:143465"/>
    <display value="ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD"/>
  </concept>
  <concept>
    <code value="OMIM:147891"/>
    <display
             value="ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS"/>
  </concept>
  <concept>
    <code value="OMIM:147920"/>
    <display value="KABUKI SYNDROME 1; KABUK1"/>
  </concept>
  <concept>
    <code value="OMIM:148050"/>
    <display value="KBG SYNDROME; KBGS"/>
  </concept>
  <concept>
    <code value="OMIM:149400"/>
    <display value="HYPEREKPLEXIA 1; HKPX1"/>
  </concept>
  <concept>
    <code value="OMIM:152950"/>
    <display
             value="MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR"/>
  </concept>
  <concept>
    <code value="OMIM:153670"/>
    <display
             value="BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2"/>
  </concept>
  <concept>
    <code value="OMIM:154400"/>
    <display value="ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1"/>
  </concept>
  <concept>
    <code value="OMIM:154700"/>
    <display value="MARFAN SYNDROME; MFS"/>
  </concept>
  <concept>
    <code value="OMIM:155310"/>
    <display value="VISCERAL MYOPATHY; VSCM"/>
  </concept>
  <concept>
    <code value="OMIM:158590"/>
    <display value="NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A"/>
  </concept>
  <concept>
    <code value="OMIM:158810"/>
    <display value="BETHLEM MYOPATHY 1; BTHLM1"/>
  </concept>
  <concept>
    <code value="OMIM:159550"/>
    <display value="ATAXIA-PANCYTOPENIA SYNDROME; ATXPC"/>
  </concept>
  <concept>
    <code value="OMIM:160150"/>
    <display value="MYOPATHY, CENTRONUCLEAR, 1; CNM1"/>
  </concept>
  <concept>
    <code value="OMIM:160500"/>
    <display value="MYOPATHY, DISTAL, 1; MPD1"/>
  </concept>
  <concept>
    <code value="OMIM:160800"/>
    <display value="MYOTONIA CONGENITA, AUTOSOMAL DOMINANT"/>
  </concept>
  <concept>
    <code value="OMIM:160900"/>
    <display value="MYOTONIC DYSTROPHY 1; DM1"/>
  </concept>
  <concept>
    <code value="OMIM:161800"/>
    <display value="NEMALINE MYOPATHY 3; NEM3"/>
  </concept>
  <concept>
    <code value="OMIM:163950"/>
    <display value="NOONAN SYNDROME 1; NS1"/>
  </concept>
  <concept>
    <code value="OMIM:178110"/>
    <display
             value="CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A"/>
  </concept>
  <concept>
    <code value="OMIM:178500"/>
    <display value="PULMONARY FIBROSIS, IDIOPATHIC; IPF"/>
  </concept>
  <concept>
    <code value="OMIM:180100"/>
    <display value="RETINITIS PIGMENTOSA 1; RP1"/>
  </concept>
  <concept>
    <code value="OMIM:180849"/>
    <display value="RUBINSTEIN-TAYBI SYNDROME 1; RSTS1"/>
  </concept>
  <concept>
    <code value="OMIM:181430"/>
    <display value="SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM"/>
  </concept>
  <concept>
    <code value="OMIM:182601"/>
    <display value="SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4"/>
  </concept>
  <concept>
    <code value="OMIM:188000"/>
    <display value="THROMBOCYTOPENIA 2; THC2"/>
  </concept>
  <concept>
    <code value="OMIM:191480"/>
    <display value="UNCOMBABLE HAIR SYNDROME 1; UHS1"/>
  </concept>
  <concept>
    <code value="OMIM:203800"/>
    <display value="ALSTROM SYNDROME; ALMS"/>
  </concept>
  <concept>
    <code value="OMIM:204200"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3"/>
  </concept>
  <concept>
    <code value="OMIM:204500"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2"/>
  </concept>
  <concept>
    <code value="OMIM:205100"/>
    <display value="AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2"/>
  </concept>
  <concept>
    <code value="OMIM:206900"/>
    <display value="MICROPHTHALMIA, SYNDROMIC 3; MCOPS3"/>
  </concept>
  <concept>
    <code value="OMIM:208900"/>
    <display value="ATAXIA-TELANGIECTASIA; AT"/>
  </concept>
  <concept>
    <code value="OMIM:209850"/>
    <display value="AUTISM"/>
  </concept>
  <concept>
    <code value="OMIM:209900"/>
    <display value="BARDET-BIEDL SYNDROME 1; BBS1"/>
  </concept>
  <concept>
    <code value="OMIM:210000"/>
    <display value="BEHR SYNDROME; BEHRS"/>
  </concept>
  <concept>
    <code value="OMIM:210720"/>
    <display
             value="MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2"/>
  </concept>
  <concept>
    <code value="OMIM:210900"/>
    <display value="BLOOM SYNDROME; BLM"/>
  </concept>
  <concept>
    <code value="OMIM:212065"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A"/>
  </concept>
  <concept>
    <code value="OMIM:212066"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A"/>
  </concept>
  <concept>
    <code value="OMIM:214500"/>
    <display value="CHEDIAK-HIGASHI SYNDROME; CHS"/>
  </concept>
  <concept>
    <code value="OMIM:214800"/>
    <display value="CHARGE SYNDROME"/>
  </concept>
  <concept>
    <code value="OMIM:215500"/>
    <display value="CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1"/>
  </concept>
  <concept>
    <code value="OMIM:216400"/>
    <display value="COCKAYNE SYNDROME A; CSA"/>
  </concept>
  <concept>
    <code value="OMIM:216550"/>
    <display value="COHEN SYNDROME; COH1"/>
  </concept>
  <concept>
    <code value="OMIM:217080"/>
    <display value="JALILI SYNDROME"/>
  </concept>
  <concept>
    <code value="OMIM:217980"/>
    <display
             value="CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE"/>
  </concept>
  <concept>
    <code value="OMIM:218340"/>
    <display value="TEMTAMY SYNDROME; TEMTYS"/>
  </concept>
  <concept>
    <code value="OMIM:219200"/>
    <display value="CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A"/>
  </concept>
  <concept>
    <code value="OMIM:224050"/>
    <display
             value="CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1"/>
  </concept>
  <concept>
    <code value="OMIM:224690"/>
    <display value="MEIER-GORLIN SYNDROME 1; MGORS1"/>
  </concept>
  <concept>
    <code value="OMIM:225753"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4"/>
  </concept>
  <concept>
    <code value="OMIM:225790"/>
    <display
             value="PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH"/>
  </concept>
  <concept>
    <code value="OMIM:227650"/>
    <display value="FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA"/>
  </concept>
  <concept>
    <code value="OMIM:229600"/>
    <display value="FRUCTOSE INTOLERANCE, HEREDITARY; HFI"/>
  </concept>
  <concept>
    <code value="OMIM:230000"/>
    <display value="FUCOSIDOSIS"/>
  </concept>
  <concept>
    <code value="OMIM:230500"/>
    <display value="GM1-GANGLIOSIDOSIS, TYPE I"/>
  </concept>
  <concept>
    <code value="OMIM:232300"/>
    <display value="GLYCOGEN STORAGE DISEASE II; GSD2"/>
  </concept>
  <concept>
    <code value="OMIM:232600"/>
    <display value="GLYCOGEN STORAGE DISEASE V; GSD5"/>
  </concept>
  <concept>
    <code value="OMIM:234200"/>
    <display value="NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"/>
  </concept>
  <concept>
    <code value="OMIM:234500"/>
    <display value="HARTNUP DISORDER; HND"/>
  </concept>
  <concept>
    <code value="OMIM:236000"/>
    <display value="LYMPHOMA, HODGKIN, CLASSIC; CHL"/>
  </concept>
  <concept>
    <code value="OMIM:236600"/>
    <display value="HYDROCEPHALUS, CONGENITAL, 1; HYC1"/>
  </concept>
  <concept>
    <code value="OMIM:236792"/>
    <display value="L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA"/>
  </concept>
  <concept>
    <code value="OMIM:243310"/>
    <display value="BARAITSER-WINTER SYNDROME 1; BRWS1"/>
  </concept>
  <concept>
    <code value="OMIM:244450"/>
    <display value="KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS"/>
  </concept>
  <concept>
    <code value="OMIM:245200"/>
    <display value="KRABBE DISEASE"/>
  </concept>
  <concept>
    <code value="OMIM:245359"/>
    <display value="missing"/>
  </concept>
  <concept>
    <code value="OMIM:248200"/>
    <display value="STARGARDT DISEASE 1; STGD1"/>
  </concept>
  <concept>
    <code value="OMIM:248700"/>
    <display value="MARDEN-WALKER SYNDROME; MWKS"/>
  </concept>
  <concept>
    <code value="OMIM:249000"/>
    <display value="MECKEL SYNDROME, TYPE 1; MKS1"/>
  </concept>
  <concept>
    <code value="OMIM:249900"/>
    <display
             value="METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY"/>
  </concept>
  <concept>
    <code value="OMIM:250100"/>
    <display value="METACHROMATIC LEUKODYSTROPHY; MLD"/>
  </concept>
  <concept>
    <code value="OMIM:250620"/>
    <display value="3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD"/>
  </concept>
  <concept>
    <code value="OMIM:251200"/>
    <display value="MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1"/>
  </concept>
  <concept>
    <code value="OMIM:251260"/>
    <display value="NIJMEGEN BREAKAGE SYNDROME; NBS"/>
  </concept>
  <concept>
    <code value="OMIM:251280"/>
    <display
             value="DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1"/>
  </concept>
  <concept>
    <code value="OMIM:251290"/>
    <display value="PSEUDO-TORCH SYNDROME 1; PTORCH1"/>
  </concept>
  <concept>
    <code value="OMIM:251300"/>
    <display value="GALLOWAY-MOWAT SYNDROME 1; GAMOS1"/>
  </concept>
  <concept>
    <code value="OMIM:252010"/>
    <display
             value="MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1"/>
  </concept>
  <concept>
    <code value="OMIM:252160"/>
    <display
             value="MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB"/>
  </concept>
  <concept>
    <code value="OMIM:252920"/>
    <display value="MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B"/>
  </concept>
  <concept>
    <code value="OMIM:253250"/>
    <display value="MULIBREY NANISM"/>
  </concept>
  <concept>
    <code value="OMIM:253600"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1"/>
  </concept>
  <concept>
    <code value="OMIM:253601"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2"/>
  </concept>
  <concept>
    <code value="OMIM:253700"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5"/>
  </concept>
  <concept>
    <code value="OMIM:254090"/>
    <display value="ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1"/>
  </concept>
  <concept>
    <code value="OMIM:254110"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8"/>
  </concept>
  <concept>
    <code value="OMIM:254300"/>
    <display value="MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10"/>
  </concept>
  <concept>
    <code value="OMIM:254780"/>
    <display value="MYOCLONIC EPILEPSY OF LAFORA"/>
  </concept>
  <concept>
    <code value="OMIM:254940"/>
    <display value="CAREY-FINEMAN-ZITER SYNDROME; CFZS"/>
  </concept>
  <concept>
    <code value="OMIM:255310"/>
    <display
             value="MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD"/>
  </concept>
  <concept>
    <code value="OMIM:255320"/>
    <display value="MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA"/>
  </concept>
  <concept>
    <code value="OMIM:255800"/>
    <display value="SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1"/>
  </concept>
  <concept>
    <code value="OMIM:256000"/>
    <display value="LEIGH SYNDROME; LS"/>
  </concept>
  <concept>
    <code value="OMIM:256300"/>
    <display value="NEPHROTIC SYNDROME, TYPE 1; NPHS1"/>
  </concept>
  <concept>
    <code value="OMIM:256600"/>
    <display
             value="NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A"/>
  </concept>
  <concept>
    <code value="OMIM:256700"/>
    <display value="NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1"/>
  </concept>
  <concept>
    <code value="OMIM:256730"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1"/>
  </concept>
  <concept>
    <code value="OMIM:256731"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5"/>
  </concept>
  <concept>
    <code value="OMIM:256800"/>
    <display
             value="INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA"/>
  </concept>
  <concept>
    <code value="OMIM:256850"/>
    <display value="GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1"/>
  </concept>
  <concept>
    <code value="OMIM:257220"/>
    <display value="NIEMANN-PICK DISEASE, TYPE C1; NPC1"/>
  </concept>
  <concept>
    <code value="OMIM:257320"/>
    <display value="LISSENCEPHALY 2; LIS2"/>
  </concept>
  <concept>
    <code value="OMIM:260400"/>
    <display value="SHWACHMAN-DIAMOND SYNDROME 1; SDS1"/>
  </concept>
  <concept>
    <code value="OMIM:260565"/>
    <display value="PEHO SYNDROME; PEHO"/>
  </concept>
  <concept>
    <code value="OMIM:261630"/>
    <display value="HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C"/>
  </concept>
  <concept>
    <code value="OMIM:262500"/>
    <display value="LARON SYNDROME"/>
  </concept>
  <concept>
    <code value="OMIM:263200"/>
    <display
             value="POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4"/>
  </concept>
  <concept>
    <code value="OMIM:265000"/>
    <display value="MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS"/>
  </concept>
  <concept>
    <code value="OMIM:266100"/>
    <display value="EPILEPSY, PYRIDOXINE-DEPENDENT; EPD"/>
  </concept>
  <concept>
    <code value="OMIM:266265"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C"/>
  </concept>
  <concept>
    <code value="OMIM:266500"/>
    <display value="REFSUM DISEASE, CLASSIC"/>
  </concept>
  <concept>
    <code value="OMIM:266510"/>
    <display value="PEROXISOME BIOGENESIS DISORDER 3B; PBD3B"/>
  </concept>
  <concept>
    <code value="OMIM:268800"/>
    <display value="SANDHOFF DISEASE"/>
  </concept>
  <concept>
    <code value="OMIM:270200"/>
    <display value="SJOGREN-LARSSON SYNDROME; SLS"/>
  </concept>
  <concept>
    <code value="OMIM:270800"/>
    <display value="SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A"/>
  </concept>
  <concept>
    <code value="OMIM:271900"/>
    <display value="CANAVAN DISEASE"/>
  </concept>
  <concept>
    <code value="OMIM:272800"/>
    <display value="TAY-SACHS DISEASE; TSD"/>
  </concept>
  <concept>
    <code value="OMIM:273300"/>
    <display value="TESTICULAR GERM CELL TUMOR; TGCT"/>
  </concept>
  <concept>
    <code value="OMIM:274000"/>
    <display value="THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR"/>
  </concept>
  <concept>
    <code value="OMIM:276901"/>
    <display value="USHER SYNDROME, TYPE IIA; USH2A"/>
  </concept>
  <concept>
    <code value="OMIM:277470"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A"/>
  </concept>
  <concept>
    <code value="OMIM:300029"/>
    <display value="RETINITIS PIGMENTOSA 3; RP3"/>
  </concept>
  <concept>
    <code value="OMIM:300067"/>
    <display value="LISSENCEPHALY, X-LINKED, 1; LISX1"/>
  </concept>
  <concept>
    <code value="OMIM:300088"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9"/>
  </concept>
  <concept>
    <code value="OMIM:300100"/>
    <display value="ADRENOLEUKODYSTROPHY; ALD"/>
  </concept>
  <concept>
    <code value="OMIM:300376"/>
    <display value="MUSCULAR DYSTROPHY, BECKER TYPE; BMD"/>
  </concept>
  <concept>
    <code value="OMIM:300387"/>
    <display value="MENTAL RETARDATION, X-LINKED 63; MRX63"/>
  </concept>
  <concept>
    <code value="OMIM:300476"/>
    <display value="CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3"/>
  </concept>
  <concept>
    <code value="OMIM:300486"/>
    <display
             value="MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE"/>
  </concept>
  <concept>
    <code value="OMIM:300495"/>
    <display value="AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2"/>
  </concept>
  <concept>
    <code value="OMIM:300523"/>
    <display value="ALLAN-HERNDON-DUDLEY SYNDROME; AHDS"/>
  </concept>
  <concept>
    <code value="OMIM:300534"/>
    <display
             value="MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ"/>
  </concept>
  <concept>
    <code value="OMIM:300695"/>
    <display value="SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM"/>
  </concept>
  <concept>
    <code value="OMIM:300749"/>
    <display
             value="MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH"/>
  </concept>
  <concept>
    <code value="OMIM:300804"/>
    <display value="JOUBERT SYNDROME 10; JBTS10"/>
  </concept>
  <concept>
    <code value="OMIM:300881"/>
    <display value="MOVED TO 615777"/>
  </concept>
  <concept>
    <code value="OMIM:300882"/>
    <display value="CORNELIA DE LANGE SYNDROME 5; CDLS5"/>
  </concept>
  <concept>
    <code value="OMIM:300894"/>
    <display value="NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5"/>
  </concept>
  <concept>
    <code value="OMIM:300908"/>
    <display
             value="ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY"/>
  </concept>
  <concept>
    <code value="OMIM:300957"/>
    <display value="MENTAL RETARDATION, X-LINKED 12; MRX12"/>
  </concept>
  <concept>
    <code value="OMIM:300958"/>
    <display
             value="INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB"/>
  </concept>
  <concept>
    <code value="OMIM:300966"/>
    <display value="MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33"/>
  </concept>
  <concept>
    <code value="OMIM:300968"/>
    <display
             value="MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F"/>
  </concept>
  <concept>
    <code value="OMIM:300983"/>
    <display value="MENTAL RETARDATION, X-LINKED 104; MRX104"/>
  </concept>
  <concept>
    <code value="OMIM:300986"/>
    <display
             value="MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB"/>
  </concept>
  <concept>
    <code value="OMIM:301050"/>
    <display value="ALPORT SYNDROME 1, X-LINKED; ATS1"/>
  </concept>
  <concept>
    <code value="OMIM:301310"/>
    <display value="ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT"/>
  </concept>
  <concept>
    <code value="OMIM:304340"/>
    <display value="PETTIGREW SYNDROME; PGS"/>
  </concept>
  <concept>
    <code value="OMIM:305100"/>
    <display value="ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED"/>
  </concept>
  <concept>
    <code value="OMIM:308350"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1"/>
  </concept>
  <concept>
    <code value="OMIM:309500"/>
    <display value="RENPENNING SYNDROME 1; RENS1"/>
  </concept>
  <concept>
    <code value="OMIM:309541"/>
    <display value="METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE"/>
  </concept>
  <concept>
    <code value="OMIM:309580"/>
    <display
             value="MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1"/>
  </concept>
  <concept>
    <code value="OMIM:310468"/>
    <display
             value="NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN"/>
  </concept>
  <concept>
    <code value="OMIM:311070"/>
    <display
             value="CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5"/>
  </concept>
  <concept>
    <code value="OMIM:313850"/>
    <display value="THORACOABDOMINAL SYNDROME; THAS"/>
  </concept>
  <concept>
    <code value="OMIM:314580"/>
    <display value="WIEACKER-WOLFF SYNDROME; WRWF"/>
  </concept>
  <concept>
    <code value="OMIM:600059"/>
    <display value="RETINITIS PIGMENTOSA 13; RP13"/>
  </concept>
  <concept>
    <code value="OMIM:600105"/>
    <display value="RETINITIS PIGMENTOSA 12; RP12"/>
  </concept>
  <concept>
    <code value="OMIM:600118"/>
    <display value="WARBURG MICRO SYNDROME 1; WARBM1"/>
  </concept>
  <concept>
    <code value="OMIM:600132"/>
    <display value="RETINITIS PIGMENTOSA 14; RP14"/>
  </concept>
  <concept>
    <code value="OMIM:600138"/>
    <display value="RETINITIS PIGMENTOSA 11; RP11"/>
  </concept>
  <concept>
    <code value="OMIM:600143"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8"/>
  </concept>
  <concept>
    <code value="OMIM:600334"/>
    <display value="TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD"/>
  </concept>
  <concept>
    <code value="OMIM:600373"/>
    <display value="CODAS SYNDROME"/>
  </concept>
  <concept>
    <code value="OMIM:600618"/>
    <display value="ETS VARIANT GENE 6; ETV6"/>
  </concept>
  <concept>
    <code value="OMIM:600995"/>
    <display value="NEPHROTIC SYNDROME, TYPE 2; NPHS2"/>
  </concept>
  <concept>
    <code value="OMIM:601088"/>
    <display value="AYME-GRIPP SYNDROME; AYGRP"/>
  </concept>
  <concept>
    <code value="OMIM:601414"/>
    <display value="RETINITIS PIGMENTOSA 18; RP18"/>
  </concept>
  <concept>
    <code value="OMIM:601419"/>
    <display value="MYOPATHY, MYOFIBRILLAR, 1; MFM1"/>
  </concept>
  <concept>
    <code value="OMIM:601680"/>
    <display value="ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1"/>
  </concept>
  <concept>
    <code value="OMIM:601718"/>
    <display value="RETINITIS PIGMENTOSA 19; RP19"/>
  </concept>
  <concept>
    <code value="OMIM:601780"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6"/>
  </concept>
  <concept>
    <code value="OMIM:601815"/>
    <display value="PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD"/>
  </concept>
  <concept>
    <code value="OMIM:601954"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7"/>
  </concept>
  <concept>
    <code value="OMIM:602482"/>
    <display value="AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3"/>
  </concept>
  <concept>
    <code value="OMIM:602579"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B"/>
  </concept>
  <concept>
    <code value="OMIM:602772"/>
    <display value="RETINITIS PIGMENTOSA 25; RP25"/>
  </concept>
  <concept>
    <code value="OMIM:603511"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1"/>
  </concept>
  <concept>
    <code value="OMIM:603896"/>
    <display value="LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM"/>
  </concept>
  <concept>
    <code value="OMIM:604004"/>
    <display
             value="MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1"/>
  </concept>
  <concept>
    <code value="OMIM:604116"/>
    <display value="CONE-ROD DYSTROPHY 3; CORD3"/>
  </concept>
  <concept>
    <code value="OMIM:604273"/>
    <display
             value="MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1"/>
  </concept>
  <concept>
    <code value="OMIM:604286"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4"/>
  </concept>
  <concept>
    <code value="OMIM:604317"/>
    <display
             value="MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2"/>
  </concept>
  <concept>
    <code value="OMIM:604360"/>
    <display value="SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11"/>
  </concept>
  <concept>
    <code value="OMIM:604387"/>
    <display value="NEPHRONOPHTHISIS 3; NPHP3"/>
  </concept>
  <concept>
    <code value="OMIM:604537"/>
    <display value="LEBER CONGENITAL AMAUROSIS 5; LCA5"/>
  </concept>
  <concept>
    <code value="OMIM:604592"/>
    <display value="T CELL IMMUNE REGULATOR 1; TCIRG1"/>
  </concept>
  <concept>
    <code value="OMIM:605130"/>
    <display value="WIEDEMANN-STEINER SYNDROME; WDSTS"/>
  </concept>
  <concept>
    <code value="OMIM:605355"/>
    <display value="NEMALINE MYOPATHY 5; NEM5"/>
  </concept>
  <concept>
    <code value="OMIM:605407"/>
    <display value="SEGAWA SYNDROME, AUTOSOMAL RECESSIVE"/>
  </concept>
  <concept>
    <code value="OMIM:605637"/>
    <display value="MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP"/>
  </concept>
  <concept>
    <code value="OMIM:605670"/>
    <display value="LATE-ONSET RETINAL DEGENERATION; LORD"/>
  </concept>
  <concept>
    <code value="OMIM:605820"/>
    <display value="NONAKA MYOPATHY; NM"/>
  </concept>
  <concept>
    <code value="OMIM:605899"/>
    <display value="GLYCINE ENCEPHALOPATHY; GCE"/>
  </concept>
  <concept>
    <code value="OMIM:606068"/>
    <display value="RETINITIS PIGMENTOSA 28; RP28"/>
  </concept>
  <concept>
    <code value="OMIM:606170"/>
    <display value="GENITOPATELLAR SYNDROME; GTPTS"/>
  </concept>
  <concept>
    <code value="OMIM:606232"/>
    <display value="PHELAN-MCDERMID SYNDROME; PHMDS"/>
  </concept>
  <concept>
    <code value="OMIM:606777"/>
    <display value="GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1"/>
  </concept>
  <concept>
    <code value="OMIM:606854"/>
    <display value="POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP"/>
  </concept>
  <concept>
    <code value="OMIM:606966"/>
    <display value="NEPHRONOPHTHISIS 4; NPHP4"/>
  </concept>
  <concept>
    <code value="OMIM:606996"/>
    <display value="SENIOR-LOKEN SYNDROME 4; SLSN4"/>
  </concept>
  <concept>
    <code value="OMIM:607015"/>
    <display value="HURLER-SCHEIE SYNDROME"/>
  </concept>
  <concept>
    <code value="OMIM:607155"/>
    <display
             value="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5"/>
  </concept>
  <concept>
    <code value="OMIM:607196"/>
    <display value="MICROCEPHALY, AMISH TYPE; MCPHA"/>
  </concept>
  <concept>
    <code value="OMIM:607225"/>
    <display value="SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP"/>
  </concept>
  <concept>
    <code value="OMIM:607426"/>
    <display value="COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1"/>
  </concept>
  <concept>
    <code value="OMIM:607432"/>
    <display value="LISSENCEPHALY 1; LIS1"/>
  </concept>
  <concept>
    <code value="OMIM:607483"/>
    <display
             value="THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2"/>
  </concept>
  <concept>
    <code value="OMIM:607595"/>
    <display value="MOVED TO 175780"/>
  </concept>
  <concept>
    <code value="OMIM:607596"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A"/>
  </concept>
  <concept>
    <code value="OMIM:607855"/>
    <display
             value="MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A"/>
  </concept>
  <concept>
    <code value="OMIM:608027"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3"/>
  </concept>
  <concept>
    <code value="OMIM:608091"/>
    <display value="JOUBERT SYNDROME 2; JBTS2"/>
  </concept>
  <concept>
    <code value="OMIM:608099"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3"/>
  </concept>
  <concept>
    <code value="OMIM:608133"/>
    <display value="RETINITIS PIGMENTOSA 7; RP7"/>
  </concept>
  <concept>
    <code value="OMIM:608358"/>
    <display value="MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA"/>
  </concept>
  <concept>
    <code value="OMIM:608380"/>
    <display value="RETINITIS PIGMENTOSA 26; RP26"/>
  </concept>
  <concept>
    <code value="OMIM:608393"/>
    <display value="MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6"/>
  </concept>
  <concept>
    <code value="OMIM:608415"/>
    <display value="PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS"/>
  </concept>
  <concept>
    <code value="OMIM:608423"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2"/>
  </concept>
  <concept>
    <code value="OMIM:608540"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K"/>
  </concept>
  <concept>
    <code value="OMIM:608629"/>
    <display value="JOUBERT SYNDROME 3; JBTS3"/>
  </concept>
  <concept>
    <code value="OMIM:608643"/>
    <display value="AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY"/>
  </concept>
  <concept>
    <code value="OMIM:608716"/>
    <display value="MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5"/>
  </concept>
  <concept>
    <code value="OMIM:608804"/>
    <display value="LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2"/>
  </concept>
  <concept>
    <code value="OMIM:608807"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10"/>
  </concept>
  <concept>
    <code value="OMIM:609033"/>
    <display
             value="POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1"/>
  </concept>
  <concept>
    <code value="OMIM:609056"/>
    <display
             value="SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS"/>
  </concept>
  <concept>
    <code value="OMIM:609195"/>
    <display value="SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26"/>
  </concept>
  <concept>
    <code value="OMIM:609200"/>
    <display value="MYOPATHY, MYOFIBRILLAR, 3; MFM3"/>
  </concept>
  <concept>
    <code value="OMIM:609260"/>
    <display
             value="CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A"/>
  </concept>
  <concept>
    <code value="OMIM:609270"/>
    <display value="SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7"/>
  </concept>
  <concept>
    <code value="OMIM:609304"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3"/>
  </concept>
  <concept>
    <code value="OMIM:609524"/>
    <display value="MYOPATHY, MYOFIBRILLAR, 5; MFM5"/>
  </concept>
  <concept>
    <code value="OMIM:609560"/>
    <display
             value="MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2"/>
  </concept>
  <concept>
    <code value="OMIM:609923"/>
    <display value="RETINITIS PIGMENTOSA 31; RP31"/>
  </concept>
  <concept>
    <code value="OMIM:610019"/>
    <display value="CATARACT 18; CTRCT18"/>
  </concept>
  <concept>
    <code value="OMIM:610031"/>
    <display
             value="CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7"/>
  </concept>
  <concept>
    <code value="OMIM:610127"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10"/>
  </concept>
  <concept>
    <code value="OMIM:610181"/>
    <display value="AICARDI-GOUTIERES SYNDROME 2; AGS2"/>
  </concept>
  <concept>
    <code value="OMIM:610188"/>
    <display value="JOUBERT SYNDROME 5; JBTS5"/>
  </concept>
  <concept>
    <code value="OMIM:610217"/>
    <display
             value="NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B"/>
  </concept>
  <concept>
    <code value="OMIM:610329"/>
    <display value="AICARDI-GOUTIERES SYNDROME 3; AGS3"/>
  </concept>
  <concept>
    <code value="OMIM:610333"/>
    <display value="AICARDI-GOUTIERES SYNDROME 4; AGS4"/>
  </concept>
  <concept>
    <code value="OMIM:610359"/>
    <display value="RETINITIS PIGMENTOSA 33; RP33"/>
  </concept>
  <concept>
    <code value="OMIM:610443"/>
    <display value="KOOLEN-DE VRIES SYNDROME; KDVS"/>
  </concept>
  <concept>
    <code value="OMIM:610444"/>
    <display
             value="NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3"/>
  </concept>
  <concept>
    <code value="OMIM:610489"/>
    <display
             value="PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1"/>
  </concept>
  <concept>
    <code value="OMIM:610532"/>
    <display value="LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5"/>
  </concept>
  <concept>
    <code value="OMIM:610688"/>
    <display value="JOUBERT SYNDROME 6; JBTS6"/>
  </concept>
  <concept>
    <code value="OMIM:610725"/>
    <display value="NEPHROTIC SYNDROME, TYPE 3; NPHS3"/>
  </concept>
  <concept>
    <code value="OMIM:610951"/>
    <display value="CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7"/>
  </concept>
  <concept>
    <code value="OMIM:611091"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5"/>
  </concept>
  <concept>
    <code value="OMIM:611302"/>
    <display value="SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2"/>
  </concept>
  <concept>
    <code value="OMIM:611307"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12"/>
  </concept>
  <concept>
    <code value="OMIM:611560"/>
    <display value="JOUBERT SYNDROME 7; JBTS7"/>
  </concept>
  <concept>
    <code value="OMIM:611603"/>
    <display value="LISSENCEPHALY 3; LIS3"/>
  </concept>
  <concept>
    <code value="OMIM:611705"/>
    <display value="SALIH MYOPATHY; SALMY"/>
  </concept>
  <concept>
    <code value="OMIM:611721"/>
    <display value="COMBINED SAPOSIN DEFICIENCY"/>
  </concept>
  <concept>
    <code value="OMIM:611726"/>
    <display
             value="EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3"/>
  </concept>
  <concept>
    <code value="OMIM:611755"/>
    <display value="LEBER CONGENITAL AMAUROSIS 10; LCA10"/>
  </concept>
  <concept>
    <code value="OMIM:612015"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N"/>
  </concept>
  <concept>
    <code value="OMIM:612095"/>
    <display value="RETINITIS PIGMENTOSA 41; RP41"/>
  </concept>
  <concept>
    <code value="OMIM:612126"/>
    <display value="GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2"/>
  </concept>
  <concept>
    <code value="OMIM:612285"/>
    <display value="JOUBERT SYNDROME 9; JBTS9"/>
  </concept>
  <concept>
    <code value="OMIM:612337"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22"/>
  </concept>
  <concept>
    <code value="OMIM:612370"/>
    <display
             value="HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5"/>
  </concept>
  <concept>
    <code value="OMIM:612438"/>
    <display value="LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6"/>
  </concept>
  <concept>
    <code value="OMIM:612528"/>
    <display value="DIAMOND-BLACKFAN ANEMIA 5; DBA5"/>
  </concept>
  <concept>
    <code value="OMIM:612621"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5"/>
  </concept>
  <concept>
    <code value="OMIM:612712"/>
    <display value="LEBER CONGENITAL AMAUROSIS 13; LCA13"/>
  </concept>
  <concept>
    <code value="OMIM:612716"/>
    <display
             value="DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY"/>
  </concept>
  <concept>
    <code value="OMIM:612780"/>
    <display
             value="SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES"/>
  </concept>
  <concept>
    <code value="OMIM:612936"/>
    <display value="SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50"/>
  </concept>
  <concept>
    <code value="OMIM:612943"/>
    <display value="RETINITIS PIGMENTOSA 42; RP42"/>
  </concept>
  <concept>
    <code value="OMIM:612951"/>
    <display value="LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY"/>
  </concept>
  <concept>
    <code value="OMIM:613065"/>
    <display value="LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL"/>
  </concept>
  <concept>
    <code value="OMIM:613091"/>
    <display
             value="SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3"/>
  </concept>
  <concept>
    <code value="OMIM:613155"/>
    <display
             value="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1"/>
  </concept>
  <concept>
    <code value="OMIM:613156"/>
    <display
             value="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2"/>
  </concept>
  <concept>
    <code value="OMIM:613158"/>
    <display
             value="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2"/>
  </concept>
  <concept>
    <code value="OMIM:613192"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13"/>
  </concept>
  <concept>
    <code value="OMIM:613205"/>
    <display value="MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED"/>
  </concept>
  <concept>
    <code value="OMIM:613216"/>
    <display value="NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C"/>
  </concept>
  <concept>
    <code value="OMIM:613217"/>
    <display value="DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5"/>
  </concept>
  <concept>
    <code value="OMIM:613402"/>
    <display value="MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ"/>
  </concept>
  <concept>
    <code value="OMIM:613428"/>
    <display value="RETINITIS PIGMENTOSA 54; RP54"/>
  </concept>
  <concept>
    <code value="OMIM:613454"/>
    <display value="RETT SYNDROME, CONGENITAL VARIANT"/>
  </concept>
  <concept>
    <code value="OMIM:613550"/>
    <display value="NEPHRONOPHTHISIS 11; NPHP11"/>
  </concept>
  <concept>
    <code value="OMIM:613561"/>
    <display
             value="MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2"/>
  </concept>
  <concept>
    <code value="OMIM:613587"/>
    <display value="OCCULT MACULAR DYSTROPHY; OCMD"/>
  </concept>
  <concept>
    <code value="OMIM:613612"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I"/>
  </concept>
  <concept>
    <code value="OMIM:613660"/>
    <display value="CONE-ROD DYSTROPHY 15; CORD15"/>
  </concept>
  <concept>
    <code value="OMIM:613668"/>
    <display
             value="MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY"/>
  </concept>
  <concept>
    <code value="OMIM:613680"/>
    <display value="BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS"/>
  </concept>
  <concept>
    <code value="OMIM:613684"/>
    <display value="RUBINSTEIN-TAYBI SYNDROME 2; RSTS2"/>
  </concept>
  <concept>
    <code value="OMIM:613690"/>
    <display value="CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7"/>
  </concept>
  <concept>
    <code value="OMIM:613706"/>
    <display value="NOONAN SYNDROME 7; NS7"/>
  </concept>
  <concept>
    <code value="OMIM:613722"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12"/>
  </concept>
  <concept>
    <code value="OMIM:613731"/>
    <display value="RETINITIS PIGMENTOSA 4; RP4"/>
  </concept>
  <concept>
    <code value="OMIM:613744"/>
    <display value="SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51"/>
  </concept>
  <concept>
    <code value="OMIM:613750"/>
    <display value="RETINITIS PIGMENTOSA 27; RP27"/>
  </concept>
  <concept>
    <code value="OMIM:613756"/>
    <display value="RETINITIS PIGMENTOSA 49; RP49"/>
  </concept>
  <concept>
    <code value="OMIM:613767"/>
    <display value="RETINITIS PIGMENTOSA 45; RP45"/>
  </concept>
  <concept>
    <code value="OMIM:613794"/>
    <display value="RETINITIS PIGMENTOSA 20; RP20"/>
  </concept>
  <concept>
    <code value="OMIM:613809"/>
    <display value="RETINITIS PIGMENTOSA 39; RP39"/>
  </concept>
  <concept>
    <code value="OMIM:613810"/>
    <display value="RETINITIS PIGMENTOSA 43; RP43"/>
  </concept>
  <concept>
    <code value="OMIM:613811"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D"/>
  </concept>
  <concept>
    <code value="OMIM:613820"/>
    <display value="NEPHRONOPHTHISIS 12; NPHP12"/>
  </concept>
  <concept>
    <code value="OMIM:613835"/>
    <display value="LEBER CONGENITAL AMAUROSIS 8; LCA8"/>
  </concept>
  <concept>
    <code value="OMIM:613861"/>
    <display value="RETINITIS PIGMENTOSA 59; RP59"/>
  </concept>
  <concept>
    <code value="OMIM:613862"/>
    <display value="RETINITIS PIGMENTOSA 38; RP38"/>
  </concept>
  <concept>
    <code value="OMIM:614034"/>
    <display value="HEME OXYGENASE 1 DEFICIENCY; HMOX1D"/>
  </concept>
  <concept>
    <code value="OMIM:614065"/>
    <display value="MYOPATHY, DISTAL, 4; MPD4"/>
  </concept>
  <concept>
    <code value="OMIM:614173"/>
    <display value="JOUBERT SYNDROME 13; JBTS13"/>
  </concept>
  <concept>
    <code value="OMIM:614180"/>
    <display value="RETINITIS PIGMENTOSA 61; RP61"/>
  </concept>
  <concept>
    <code value="OMIM:614181"/>
    <display value="RETINITIS PIGMENTOSA 62; RP62"/>
  </concept>
  <concept>
    <code value="OMIM:614199"/>
    <display
             value="NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5"/>
  </concept>
  <concept>
    <code value="OMIM:614202"/>
    <display value="RAFIQ SYNDROME; RAFQS"/>
  </concept>
  <concept>
    <code value="OMIM:614225"/>
    <display value="WARBURG MICRO SYNDROME 2; WARBM2"/>
  </concept>
  <concept>
    <code value="OMIM:614254"/>
    <display
             value="NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD"/>
  </concept>
  <concept>
    <code value="OMIM:614255"/>
    <display value="NESCAV SYNDROME; NESCAVS"/>
  </concept>
  <concept>
    <code value="OMIM:614299"/>
    <display
             value="MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2"/>
  </concept>
  <concept>
    <code value="OMIM:614381"/>
    <display
             value="LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8"/>
  </concept>
  <concept>
    <code value="OMIM:614424"/>
    <display value="JOUBERT SYNDROME 14; JBTS14"/>
  </concept>
  <concept>
    <code value="OMIM:614500"/>
    <display value="CONE-ROD DYSTROPHY 16; CORD16"/>
  </concept>
  <concept>
    <code value="OMIM:614557"/>
    <display
             value="EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2"/>
  </concept>
  <concept>
    <code value="OMIM:614607"/>
    <display value="COFFIN-SIRIS SYNDROME 2; CSS2"/>
  </concept>
  <concept>
    <code value="OMIM:614615"/>
    <display value="JOUBERT SYNDROME 17; JBTS17"/>
  </concept>
  <concept>
    <code value="OMIM:614669"/>
    <display value="AURICULOCONDYLAR SYNDROME 2; ARCND2"/>
  </concept>
  <concept>
    <code value="OMIM:614678"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B"/>
  </concept>
  <concept>
    <code value="OMIM:614744"/>
    <display value="FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3"/>
  </concept>
  <concept>
    <code value="OMIM:614753"/>
    <display value="SOTOS SYNDROME 2; SOTOS2"/>
  </concept>
  <concept>
    <code value="OMIM:614831"/>
    <display value="SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13"/>
  </concept>
  <concept>
    <code value="OMIM:614833"/>
    <display
             value="MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP"/>
  </concept>
  <concept>
    <code value="OMIM:614876"/>
    <display value="PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A"/>
  </concept>
  <concept>
    <code value="OMIM:614877"/>
    <display value="PEROXISOME BIOGENESIS DISORDER 8B; PBD8B"/>
  </concept>
  <concept>
    <code value="OMIM:614932"/>
    <display
             value="COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13"/>
  </concept>
  <concept>
    <code value="OMIM:614945"/>
    <display value="DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B"/>
  </concept>
  <concept>
    <code value="OMIM:615030"/>
    <display value="SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56"/>
  </concept>
  <concept>
    <code value="OMIM:615031"/>
    <display value="SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49"/>
  </concept>
  <concept>
    <code value="OMIM:615065"/>
    <display value="ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D"/>
  </concept>
  <concept>
    <code value="OMIM:615071"/>
    <display value="ALAZAMI SYNDROME; ALAZS"/>
  </concept>
  <concept>
    <code value="OMIM:615095"/>
    <display value="MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10"/>
  </concept>
  <concept>
    <code value="OMIM:615181"/>
    <display
             value="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11"/>
  </concept>
  <concept>
    <code value="OMIM:615190"/>
    <display value="DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5"/>
  </concept>
  <concept>
    <code value="OMIM:615191"/>
    <display value="LISSENCEPHALY 5; LIS5"/>
  </concept>
  <concept>
    <code value="OMIM:615268"/>
    <display
             value="CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4"/>
  </concept>
  <concept>
    <code value="OMIM:615286"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36"/>
  </concept>
  <concept>
    <code value="OMIM:615352"/>
    <display
             value="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14"/>
  </concept>
  <concept>
    <code value="OMIM:615411"/>
    <display
             value="CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3"/>
  </concept>
  <concept>
    <code value="OMIM:615412"/>
    <display
             value="CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4"/>
  </concept>
  <concept>
    <code value="OMIM:615419"/>
    <display
             value="HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1"/>
  </concept>
  <concept>
    <code value="OMIM:615471"/>
    <display
             value="MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13"/>
  </concept>
  <concept>
    <code value="OMIM:615476"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18"/>
  </concept>
  <concept>
    <code value="OMIM:615485"/>
    <display value="BAINBRIDGE-ROPERS SYNDROME; BRPS"/>
  </concept>
  <concept>
    <code value="OMIM:615502"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21"/>
  </concept>
  <concept>
    <code value="OMIM:615546"/>
    <display value="VAN MALDERGEM SYNDROME 2; VMLDS2"/>
  </concept>
  <concept>
    <code value="OMIM:615574"/>
    <display value="ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD"/>
  </concept>
  <concept>
    <code value="OMIM:615681"/>
    <display value="SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62"/>
  </concept>
  <concept>
    <code value="OMIM:615715"/>
    <display value="BONE MARROW FAILURE SYNDROME 2; BMFS2"/>
  </concept>
  <concept>
    <code value="OMIM:615716"/>
    <display
             value="HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4"/>
  </concept>
  <concept>
    <code value="OMIM:615760"/>
    <display
             value="MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA"/>
  </concept>
  <concept>
    <code value="OMIM:615763"/>
    <display
             value="CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5"/>
  </concept>
  <concept>
    <code value="OMIM:615809"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9"/>
  </concept>
  <concept>
    <code value="OMIM:615829"/>
    <display value="XIA-GIBBS SYNDROME; XIGIS"/>
  </concept>
  <concept>
    <code value="OMIM:615834"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26"/>
  </concept>
  <concept>
    <code value="OMIM:615846"/>
    <display value="AICARDI-GOUTIERES SYNDROME 7; AGS7"/>
  </concept>
  <concept>
    <code value="OMIM:615866"/>
    <display value="COFFIN-SIRIS SYNDROME 9; CSS9"/>
  </concept>
  <concept>
    <code value="OMIM:615909"/>
    <display value="DIAMOND-BLACKFAN ANEMIA 13; DBA13"/>
  </concept>
  <concept>
    <code value="OMIM:615948"/>
    <display value="OROFACIODIGITAL SYNDROME XIV; OFD14"/>
  </concept>
  <concept>
    <code value="OMIM:615959"/>
    <display value="MYOPATHY, CENTRONUCLEAR, 5; CNM5"/>
  </concept>
  <concept>
    <code value="OMIM:615960"/>
    <display value="PORETTI-BOLTSHAUSER SYNDROME; PTBHS"/>
  </concept>
  <concept>
    <code value="OMIM:615973"/>
    <display value="CONE-ROD DYSTROPHY 20; CORD20"/>
  </concept>
  <concept>
    <code value="OMIM:615981"/>
    <display value="BARDET-BIEDL SYNDROME 2; BBS2"/>
  </concept>
  <concept>
    <code value="OMIM:615982"/>
    <display value="BARDET-BIEDL SYNDROME 4; BBS4"/>
  </concept>
  <concept>
    <code value="OMIM:615983"/>
    <display value="BARDET-BIEDL SYNDROME 5; BBS5"/>
  </concept>
  <concept>
    <code value="OMIM:615993"/>
    <display value="BARDET-BIEDL SYNDROME 16; BBS16"/>
  </concept>
  <concept>
    <code value="OMIM:616051"/>
    <display value="MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13"/>
  </concept>
  <concept>
    <code value="OMIM:616056"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26"/>
  </concept>
  <concept>
    <code value="OMIM:616081"/>
    <display value="PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C"/>
  </concept>
  <concept>
    <code value="OMIM:616094"/>
    <display
             value="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12"/>
  </concept>
  <concept>
    <code value="OMIM:616127"/>
    <display value="SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17"/>
  </concept>
  <concept>
    <code value="OMIM:616140"/>
    <display value="LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9"/>
  </concept>
  <concept>
    <code value="OMIM:616155"/>
    <display value="CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S"/>
  </concept>
  <concept>
    <code value="OMIM:616171"/>
    <display
             value="MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2"/>
  </concept>
  <concept>
    <code value="OMIM:616199"/>
    <display value="POLYGLUCOSAN BODY MYOPATHY 2; PGBM2"/>
  </concept>
  <concept>
    <code value="OMIM:616211"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28"/>
  </concept>
  <concept>
    <code value="OMIM:616263"/>
    <display
             value="NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD"/>
  </concept>
  <concept>
    <code value="OMIM:616266"/>
    <display
             value="CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD"/>
  </concept>
  <concept>
    <code value="OMIM:616271"/>
    <display value="3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7"/>
  </concept>
  <concept>
    <code value="OMIM:616277"/>
    <display
             value="MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D"/>
  </concept>
  <concept>
    <code value="OMIM:616281"/>
    <display
             value="NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM"/>
  </concept>
  <concept>
    <code value="OMIM:616321"/>
    <display
             value="MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A"/>
  </concept>
  <concept>
    <code value="OMIM:616354"/>
    <display value="SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20"/>
  </concept>
  <concept>
    <code value="OMIM:616394"/>
    <display value="RETINITIS PIGMENTOSA 71; RP71"/>
  </concept>
  <concept>
    <code value="OMIM:616420"/>
    <display value="LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10"/>
  </concept>
  <concept>
    <code value="OMIM:616421"/>
    <display value="MYOCLONIC-ATONIC EPILEPSY; MAE"/>
  </concept>
  <concept>
    <code value="OMIM:616471"/>
    <display value="BETHLEM MYOPATHY 2; BTHLM2"/>
  </concept>
  <concept>
    <code value="OMIM:616490"/>
    <display value="JOUBERT SYNDROME 23; JBTS23"/>
  </concept>
  <concept>
    <code value="OMIM:616531"/>
    <display
             value="POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA"/>
  </concept>
  <concept>
    <code value="OMIM:616544"/>
    <display value="RETINITIS PIGMENTOSA 73; RP73"/>
  </concept>
  <concept>
    <code value="OMIM:616562"/>
    <display value="RETINITIS PIGMENTOSA 74; RP74"/>
  </concept>
  <concept>
    <code value="OMIM:616564"/>
    <display value="NOONAN SYNDROME 10; NS10"/>
  </concept>
  <concept>
    <code value="OMIM:616632"/>
    <display
             value="SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS"/>
  </concept>
  <concept>
    <code value="OMIM:616647"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35"/>
  </concept>
  <concept>
    <code value="OMIM:616649"/>
    <display value="SPHEROCYTOSIS, TYPE 2; SPH2"/>
  </concept>
  <concept>
    <code value="OMIM:616651"/>
    <display value="ROIFMAN SYNDROME; RFMN"/>
  </concept>
  <concept>
    <code value="OMIM:616654"/>
    <display value="JOUBERT SYNDROME 24; JBTS24"/>
  </concept>
  <concept>
    <code value="OMIM:616657"/>
    <display
             value="SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM"/>
  </concept>
  <concept>
    <code value="OMIM:616668"/>
    <display value="CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X"/>
  </concept>
  <concept>
    <code value="OMIM:616683"/>
    <display value="LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12"/>
  </concept>
  <concept>
    <code value="OMIM:616721"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N"/>
  </concept>
  <concept>
    <code value="OMIM:616732"/>
    <display
             value="OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10"/>
  </concept>
  <concept>
    <code value="OMIM:616738"/>
    <display
             value="RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2"/>
  </concept>
  <concept>
    <code value="OMIM:616740"/>
    <display value="IMMUNODEFICIENCY 46; IMD46"/>
  </concept>
  <concept>
    <code value="OMIM:616789"/>
    <display
             value="MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD"/>
  </concept>
  <concept>
    <code value="OMIM:616801"/>
    <display
             value="HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2"/>
  </concept>
  <concept>
    <code value="OMIM:616875"/>
    <display
             value="CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"/>
  </concept>
  <concept>
    <code value="OMIM:616892"/>
    <display value="NEPHROTIC SYNDROME, TYPE 12; NPHS12"/>
  </concept>
  <concept>
    <code value="OMIM:616900"/>
    <display
             value="HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3"/>
  </concept>
  <concept>
    <code value="OMIM:616973"/>
    <display value="MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42"/>
  </concept>
  <concept>
    <code value="OMIM:617011"/>
    <display
             value="MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR"/>
  </concept>
  <concept>
    <code value="OMIM:617013"/>
    <display value="HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2"/>
  </concept>
  <concept>
    <code value="OMIM:617047"/>
    <display value="CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26"/>
  </concept>
  <concept>
    <code value="OMIM:617052"/>
    <display value="BONE MARROW FAILURE SYNDROME 3; BMFS3"/>
  </concept>
  <concept>
    <code value="OMIM:617053"/>
    <display value="MIRAGE SYNDROME; MIRAGE"/>
  </concept>
  <concept>
    <code value="OMIM:617093"/>
    <display
             value="GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH"/>
  </concept>
  <concept>
    <code value="OMIM:617106"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42"/>
  </concept>
  <concept>
    <code value="OMIM:617120"/>
    <display value="JOUBERT SYNDROME 27; JBTS27"/>
  </concept>
  <concept>
    <code value="OMIM:617121"/>
    <display value="JOUBERT SYNDROME 28; JBTS28"/>
  </concept>
  <concept>
    <code value="OMIM:617123"/>
    <display value="RETINITIS PIGMENTOSA 76; RP76"/>
  </concept>
  <concept>
    <code value="OMIM:617137"/>
    <display value="FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2"/>
  </concept>
  <concept>
    <code value="OMIM:617146"/>
    <display
             value="ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT"/>
  </concept>
  <concept>
    <code value="OMIM:617183"/>
    <display value="HAREL-YOON SYNDROME; HAYOS"/>
  </concept>
  <concept>
    <code value="OMIM:617193"/>
    <display
             value="ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT"/>
  </concept>
  <concept>
    <code value="OMIM:617222"/>
    <display value="SUDDEN CARDIAC FAILURE, INFANTILE; SCFI"/>
  </concept>
  <concept>
    <code value="OMIM:617276"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48"/>
  </concept>
  <concept>
    <code value="OMIM:617330"/>
    <display
             value="HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS"/>
  </concept>
  <concept>
    <code value="OMIM:617350"/>
    <display value="DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52"/>
  </concept>
  <concept>
    <code value="OMIM:617397"/>
    <display value="PSEUDO-TORCH SYNDROME 2; PTORCH2"/>
  </concept>
  <concept>
    <code value="OMIM:617433"/>
    <display value="RETINITIS PIGMENTOSA 78; RP78"/>
  </concept>
  <concept>
    <code value="OMIM:617443"/>
    <display value="BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21"/>
  </concept>
  <concept>
    <code value="OMIM:617460"/>
    <display value="RETINITIS PIGMENTOSA 79; RP79"/>
  </concept>
  <concept>
    <code value="OMIM:617481"/>
    <display
             value="NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA"/>
  </concept>
  <concept>
    <code value="OMIM:617537"/>
    <display value="RAHMAN SYNDROME; RMNS"/>
  </concept>
  <concept>
    <code value="OMIM:617547"/>
    <display
             value="RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS"/>
  </concept>
  <concept>
    <code value="OMIM:617622"/>
    <display value="JOUBERT SYNDROME 30; JBTS30"/>
  </concept>
  <concept>
    <code value="OMIM:617675"/>
    <display value="MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT"/>
  </concept>
  <concept>
    <code value="OMIM:617681"/>
    <display value="BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2"/>
  </concept>
  <concept>
    <code value="OMIM:617694"/>
    <display value="AL KAISSI SYNDROME; ALKAS"/>
  </concept>
  <concept>
    <code value="OMIM:617781"/>
    <display value="RETINITIS PIGMENTOSA 80; RP80"/>
  </concept>
  <concept>
    <code value="OMIM:617805"/>
    <display value="RENAL HYPODYSPLASIA/APLASIA 3; RHDA3"/>
  </concept>
  <concept>
    <code value="OMIM:617807"/>
    <display
             value="NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW"/>
  </concept>
  <concept>
    <code value="OMIM:617829"/>
    <display
             value="EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2"/>
  </concept>
  <concept>
    <code value="OMIM:617873"/>
    <display
             value="COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35"/>
  </concept>
  <concept>
    <code value="OMIM:617948"/>
    <display value="ELLIPTOCYTOSIS 3; EL3"/>
  </concept>
  <concept>
    <code value="OMIM:617954"/>
    <display value="MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6"/>
  </concept>
  <concept>
    <code value="OMIM:618056"/>
    <display
             value="NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS"/>
  </concept>
  <concept>
    <code value="OMIM:618088"/>
    <display
             value="NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS"/>
  </concept>
  <concept>
    <code value="OMIM:618129"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4"/>
  </concept>
  <concept>
    <code value="OMIM:618138"/>
    <display
             value="MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23"/>
  </concept>
  <concept>
    <code value="OMIM:618174"/>
    <display
             value="CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9"/>
  </concept>
  <concept>
    <code value="OMIM:618225"/>
    <display
             value="MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4"/>
  </concept>
  <concept>
    <code value="OMIM:618273"/>
    <display
             value="MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM"/>
  </concept>
  <concept>
    <code value="OMIM:618316"/>
    <display
             value="INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF"/>
  </concept>
  <concept>
    <code value="OMIM:618325"/>
    <display
             value="LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9"/>
  </concept>
  <concept>
    <code value="OMIM:618404"/>
    <display value="LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18"/>
  </concept>
  <concept>
    <code value="OMIM:618512"/>
    <display value="O\'DONNELL-LURIA-RODAN SYNDROME; ODLURO"/>
  </concept>
  <concept>
    <code value="OMIM:614921"/>
    <display value="CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T"/>
  </concept>
</CodeSystem>