CodeSystem: OMIM
Id: omim
Title: "Online Mendelian Inheritance in Man"
Description: "An online database that describes the function and phenotypes associated with human genes"
* ^url = $omim
* ^status = #draft
* ^experimental = false
* ^caseSensitive = true
* ^content = #fragment
* ^count = 497
* #OMIM:613801 "Retinitis pigmentosa-40"
* #OMIM:213300 "Joubert syndrome 1"
* #OMIM:615780 "Retinitis pigmentosa 69"
* #OMIM:613826 "Leber congenital amaurosis 6"
* #OMIM:310200 "Duchenne muscular dystrophy"
* #OMIM:617194 "Lethal congenital contracture syndrome 11"
* #OMIM:105400 "AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1"
* #OMIM:108120 "ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A"
* #OMIM:114300 "ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3"
* #OMIM:115195 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2"
* #OMIM:115196 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3"
* #OMIM:115197 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4"
* #OMIM:115200 "CARDIOMYOPATHY, DILATED, 1A; CMD1A"
* #OMIM:117000 "CENTRAL CORE DISEASE OF MUSCLE; CCD"
* #OMIM:117360 "SPINOCEREBELLAR ATAXIA 29; SCA29"
* #OMIM:119530 "OROFACIAL CLEFT 1; OFC1"
* #OMIM:122470 "CORNELIA DE LANGE SYNDROME 1; CDLS1"
* #OMIM:130600 "ELLIPTOCYTOSIS 2; EL2"
* #OMIM:135900 "COFFIN-SIRIS SYNDROME 1; CSS1"
* #OMIM:136140 "FLOATING-HARBOR SYNDROME; FLHS"
* #OMIM:137920 "RENAL CYSTS AND DIABETES SYNDROME; RCAD"
* #OMIM:139090 "GRAY PLATELET SYNDROME; GPS"
* #OMIM:139210 "MYHRE SYNDROME; MYHRS"
* #OMIM:143095 "SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD"
* #OMIM:143465 "ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD"
* #OMIM:147891 "ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS"
* #OMIM:147920 "KABUKI SYNDROME 1; KABUK1"
* #OMIM:148050 "KBG SYNDROME; KBGS"
* #OMIM:149400 "HYPEREKPLEXIA 1; HKPX1"
* #OMIM:152950 "MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR"
* #OMIM:153670 "BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2"
* #OMIM:154400 "ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1"
* #OMIM:154700 "MARFAN SYNDROME; MFS"
* #OMIM:155310 "VISCERAL MYOPATHY; VSCM"
* #OMIM:158590 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A"
* #OMIM:158810 "BETHLEM MYOPATHY 1; BTHLM1"
* #OMIM:159550 "ATAXIA-PANCYTOPENIA SYNDROME; ATXPC"
* #OMIM:160150 "MYOPATHY, CENTRONUCLEAR, 1; CNM1"
* #OMIM:160500 "MYOPATHY, DISTAL, 1; MPD1"
* #OMIM:160800 "MYOTONIA CONGENITA, AUTOSOMAL DOMINANT"
* #OMIM:160900 "MYOTONIC DYSTROPHY 1; DM1"
* #OMIM:161800 "NEMALINE MYOPATHY 3; NEM3"
* #OMIM:163950 "NOONAN SYNDROME 1; NS1"
* #OMIM:178110 "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A"
* #OMIM:178500 "PULMONARY FIBROSIS, IDIOPATHIC; IPF"
* #OMIM:180100 "RETINITIS PIGMENTOSA 1; RP1"
* #OMIM:180849 "RUBINSTEIN-TAYBI SYNDROME 1; RSTS1"
* #OMIM:181430 "SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM"
* #OMIM:182601 "SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4"
* #OMIM:188000 "THROMBOCYTOPENIA 2; THC2"
* #OMIM:191480 "UNCOMBABLE HAIR SYNDROME 1; UHS1"
* #OMIM:203800 "ALSTROM SYNDROME; ALMS"
* #OMIM:204200 "CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3"
* #OMIM:204500 "CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2"
* #OMIM:205100 "AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2"
* #OMIM:206900 "MICROPHTHALMIA, SYNDROMIC 3; MCOPS3"
* #OMIM:208900 "ATAXIA-TELANGIECTASIA; AT"
* #OMIM:209850 "AUTISM"
* #OMIM:209900 "BARDET-BIEDL SYNDROME 1; BBS1"
* #OMIM:210000 "BEHR SYNDROME; BEHRS"
* #OMIM:210720 "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2"
* #OMIM:210900 "BLOOM SYNDROME; BLM"
* #OMIM:212065 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A"
* #OMIM:212066 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A"
* #OMIM:214500 "CHEDIAK-HIGASHI SYNDROME; CHS"
* #OMIM:214800 "CHARGE SYNDROME"
* #OMIM:215500 "CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1"
* #OMIM:216400 "COCKAYNE SYNDROME A; CSA"
* #OMIM:216550 "COHEN SYNDROME; COH1"
* #OMIM:217080 "JALILI SYNDROME"
* #OMIM:217980 "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE"
* #OMIM:218340 "TEMTAMY SYNDROME; TEMTYS"
* #OMIM:219200 "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A"
* #OMIM:224050 "CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1"
* #OMIM:224690 "MEIER-GORLIN SYNDROME 1; MGORS1"
* #OMIM:225753 "PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4"
* #OMIM:225790 "PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH"
* #OMIM:227650 "FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA"
* #OMIM:229600 "FRUCTOSE INTOLERANCE, HEREDITARY; HFI"
* #OMIM:230000 "FUCOSIDOSIS"
* #OMIM:230500 "GM1-GANGLIOSIDOSIS, TYPE I"
* #OMIM:232300 "GLYCOGEN STORAGE DISEASE II; GSD2"
* #OMIM:232600 "GLYCOGEN STORAGE DISEASE V; GSD5"
* #OMIM:234200 "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"
* #OMIM:234500 "HARTNUP DISORDER; HND"
* #OMIM:236000 "LYMPHOMA, HODGKIN, CLASSIC; CHL"
* #OMIM:236600 "HYDROCEPHALUS, CONGENITAL, 1; HYC1"
* #OMIM:236792 "L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA"
* #OMIM:243310 "BARAITSER-WINTER SYNDROME 1; BRWS1"
* #OMIM:244450 "KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS"
* #OMIM:245200 "KRABBE DISEASE"
* #OMIM:245359 "missing"
* #OMIM:248200 "STARGARDT DISEASE 1; STGD1"
* #OMIM:248700 "MARDEN-WALKER SYNDROME; MWKS"
* #OMIM:249000 "MECKEL SYNDROME, TYPE 1; MKS1"
* #OMIM:249900 "METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY"
* #OMIM:250100 "METACHROMATIC LEUKODYSTROPHY; MLD"
* #OMIM:250620 "3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD"
* #OMIM:251200 "MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1"
* #OMIM:251260 "NIJMEGEN BREAKAGE SYNDROME; NBS"
* #OMIM:251280 "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1"
* #OMIM:251290 "PSEUDO-TORCH SYNDROME 1; PTORCH1"
* #OMIM:251300 "GALLOWAY-MOWAT SYNDROME 1; GAMOS1"
* #OMIM:252010 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1"
* #OMIM:252160 "MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB"
* #OMIM:252920 "MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B"
* #OMIM:253250 "MULIBREY NANISM"
* #OMIM:253600 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1"
* #OMIM:253601 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2"
* #OMIM:253700 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5"
* #OMIM:254090 "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1"
* #OMIM:254110 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8"
* #OMIM:254300 "MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10"
* #OMIM:254780 "MYOCLONIC EPILEPSY OF LAFORA"
* #OMIM:254940 "CAREY-FINEMAN-ZITER SYNDROME; CFZS"
* #OMIM:255310 "MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD"
* #OMIM:255320 "MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA"
* #OMIM:255800 "SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1"
* #OMIM:256000 "LEIGH SYNDROME; LS"
* #OMIM:256300 "NEPHROTIC SYNDROME, TYPE 1; NPHS1"
* #OMIM:256600 "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A"
* #OMIM:256700 "NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1"
* #OMIM:256730 "CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1"
* #OMIM:256731 "CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5"
* #OMIM:256800 "INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA"
* #OMIM:256850 "GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1"
* #OMIM:257220 "NIEMANN-PICK DISEASE, TYPE C1; NPC1"
* #OMIM:257320 "LISSENCEPHALY 2; LIS2"
* #OMIM:260400 "SHWACHMAN-DIAMOND SYNDROME 1; SDS1"
* #OMIM:260565 "PEHO SYNDROME; PEHO"
* #OMIM:261630 "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C"
* #OMIM:262500 "LARON SYNDROME"
* #OMIM:263200 "POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4"
* #OMIM:265000 "MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS"
* #OMIM:266100 "EPILEPSY, PYRIDOXINE-DEPENDENT; EPD"
* #OMIM:266265 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C"
* #OMIM:266500 "REFSUM DISEASE, CLASSIC"
* #OMIM:266510 "PEROXISOME BIOGENESIS DISORDER 3B; PBD3B"
* #OMIM:268800 "SANDHOFF DISEASE"
* #OMIM:270200 "SJOGREN-LARSSON SYNDROME; SLS"
* #OMIM:270800 "SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A"
* #OMIM:271900 "CANAVAN DISEASE"
* #OMIM:272800 "TAY-SACHS DISEASE; TSD"
* #OMIM:273300 "TESTICULAR GERM CELL TUMOR; TGCT"
* #OMIM:274000 "THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR"
* #OMIM:276901 "USHER SYNDROME, TYPE IIA; USH2A"
* #OMIM:277470 "PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A"
* #OMIM:300029 "RETINITIS PIGMENTOSA 3; RP3"
* #OMIM:300067 "LISSENCEPHALY, X-LINKED, 1; LISX1"
* #OMIM:300088 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9"
* #OMIM:300100 "ADRENOLEUKODYSTROPHY; ALD"
* #OMIM:300376 "MUSCULAR DYSTROPHY, BECKER TYPE; BMD"
* #OMIM:300387 "MENTAL RETARDATION, X-LINKED 63; MRX63"
* #OMIM:300476 "CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3"
* #OMIM:300486 "MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE"
* #OMIM:300495 "AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2"
* #OMIM:300523 "ALLAN-HERNDON-DUDLEY SYNDROME; AHDS"
* #OMIM:300534 "MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ"
* #OMIM:300695 "SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM"
* #OMIM:300749 "MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH"
* #OMIM:300804 "JOUBERT SYNDROME 10; JBTS10"
* #OMIM:300881 "MOVED TO 615777"
* #OMIM:300882 "CORNELIA DE LANGE SYNDROME 5; CDLS5"
* #OMIM:300894 "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5"
* #OMIM:300908 "ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY"
* #OMIM:300957 "MENTAL RETARDATION, X-LINKED 12; MRX12"
* #OMIM:300958 "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB"
* #OMIM:300966 "MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33"
* #OMIM:300968 "MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F"
* #OMIM:300983 "MENTAL RETARDATION, X-LINKED 104; MRX104"
* #OMIM:300986 "MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB"
* #OMIM:301050 "ALPORT SYNDROME 1, X-LINKED; ATS1"
* #OMIM:301310 "ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT"
* #OMIM:304340 "PETTIGREW SYNDROME; PGS"
* #OMIM:305100 "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED"
* #OMIM:308350 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1"
* #OMIM:309500 "RENPENNING SYNDROME 1; RENS1"
* #OMIM:309541 "METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE"
* #OMIM:309580 "MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1"
* #OMIM:310468 "NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN"
* #OMIM:311070 "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5"
* #OMIM:313850 "THORACOABDOMINAL SYNDROME; THAS"
* #OMIM:314580 "WIEACKER-WOLFF SYNDROME; WRWF"
* #OMIM:600059 "RETINITIS PIGMENTOSA 13; RP13"
* #OMIM:600105 "RETINITIS PIGMENTOSA 12; RP12"
* #OMIM:600118 "WARBURG MICRO SYNDROME 1; WARBM1"
* #OMIM:600132 "RETINITIS PIGMENTOSA 14; RP14"
* #OMIM:600138 "RETINITIS PIGMENTOSA 11; RP11"
* #OMIM:600143 "CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8"
* #OMIM:600334 "TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD"
* #OMIM:600373 "CODAS SYNDROME"
* #OMIM:600618 "ETS VARIANT GENE 6; ETV6"
* #OMIM:600995 "NEPHROTIC SYNDROME, TYPE 2; NPHS2"
* #OMIM:601088 "AYME-GRIPP SYNDROME; AYGRP"
* #OMIM:601414 "RETINITIS PIGMENTOSA 18; RP18"
* #OMIM:601419 "MYOPATHY, MYOFIBRILLAR, 1; MFM1"
* #OMIM:601680 "ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1"
* #OMIM:601718 "RETINITIS PIGMENTOSA 19; RP19"
* #OMIM:601780 "CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6"
* #OMIM:601815 "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD"
* #OMIM:601954 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7"
* #OMIM:602482 "AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3"
* #OMIM:602579 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B"
* #OMIM:602772 "RETINITIS PIGMENTOSA 25; RP25"
* #OMIM:603511 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1"
* #OMIM:603896 "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM"
* #OMIM:604004 "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1"
* #OMIM:604116 "CONE-ROD DYSTROPHY 3; CORD3"
* #OMIM:604273 "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1"
* #OMIM:604286 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4"
* #OMIM:604317 "MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2"
* #OMIM:604360 "SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11"
* #OMIM:604387 "NEPHRONOPHTHISIS 3; NPHP3"
* #OMIM:604537 "LEBER CONGENITAL AMAUROSIS 5; LCA5"
* #OMIM:604592 "T CELL IMMUNE REGULATOR 1; TCIRG1"
* #OMIM:605130 "WIEDEMANN-STEINER SYNDROME; WDSTS"
* #OMIM:605355 "NEMALINE MYOPATHY 5; NEM5"
* #OMIM:605407 "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE"
* #OMIM:605637 "MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP"
* #OMIM:605670 "LATE-ONSET RETINAL DEGENERATION; LORD"
* #OMIM:605820 "NONAKA MYOPATHY; NM"
* #OMIM:605899 "GLYCINE ENCEPHALOPATHY; GCE"
* #OMIM:606068 "RETINITIS PIGMENTOSA 28; RP28"
* #OMIM:606170 "GENITOPATELLAR SYNDROME; GTPTS"
* #OMIM:606232 "PHELAN-MCDERMID SYNDROME; PHMDS"
* #OMIM:606777 "GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1"
* #OMIM:606854 "POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP"
* #OMIM:606966 "NEPHRONOPHTHISIS 4; NPHP4"
* #OMIM:606996 "SENIOR-LOKEN SYNDROME 4; SLSN4"
* #OMIM:607015 "HURLER-SCHEIE SYNDROME"
* #OMIM:607155 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5"
* #OMIM:607196 "MICROCEPHALY, AMISH TYPE; MCPHA"
* #OMIM:607225 "SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP"
* #OMIM:607426 "COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1"
* #OMIM:607432 "LISSENCEPHALY 1; LIS1"
* #OMIM:607483 "THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2"
* #OMIM:607595 "MOVED TO 175780"
* #OMIM:607596 "PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A"
* #OMIM:607855 "MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A"
* #OMIM:608027 "PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3"
* #OMIM:608091 "JOUBERT SYNDROME 2; JBTS2"
* #OMIM:608099 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3"
* #OMIM:608133 "RETINITIS PIGMENTOSA 7; RP7"
* #OMIM:608358 "MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA"
* #OMIM:608380 "RETINITIS PIGMENTOSA 26; RP26"
* #OMIM:608393 "MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6"
* #OMIM:608415 "PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS"
* #OMIM:608423 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2"
* #OMIM:608540 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K"
* #OMIM:608629 "JOUBERT SYNDROME 3; JBTS3"
* #OMIM:608643 "AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY"
* #OMIM:608716 "MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5"
* #OMIM:608804 "LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2"
* #OMIM:608807 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10"
* #OMIM:609033 "POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1"
* #OMIM:609056 "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS"
* #OMIM:609195 "SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26"
* #OMIM:609200 "MYOPATHY, MYOFIBRILLAR, 3; MFM3"
* #OMIM:609260 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A"
* #OMIM:609270 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7"
* #OMIM:609304 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3"
* #OMIM:609524 "MYOPATHY, MYOFIBRILLAR, 5; MFM5"
* #OMIM:609560 "MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2"
* #OMIM:609923 "RETINITIS PIGMENTOSA 31; RP31"
* #OMIM:610019 "CATARACT 18; CTRCT18"
* #OMIM:610031 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7"
* #OMIM:610127 "CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10"
* #OMIM:610181 "AICARDI-GOUTIERES SYNDROME 2; AGS2"
* #OMIM:610188 "JOUBERT SYNDROME 5; JBTS5"
* #OMIM:610217 "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B"
* #OMIM:610329 "AICARDI-GOUTIERES SYNDROME 3; AGS3"
* #OMIM:610333 "AICARDI-GOUTIERES SYNDROME 4; AGS4"
* #OMIM:610359 "RETINITIS PIGMENTOSA 33; RP33"
* #OMIM:610443 "KOOLEN-DE VRIES SYNDROME; KDVS"
* #OMIM:610444 "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3"
* #OMIM:610489 "PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1"
* #OMIM:610532 "LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5"
* #OMIM:610688 "JOUBERT SYNDROME 6; JBTS6"
* #OMIM:610725 "NEPHROTIC SYNDROME, TYPE 3; NPHS3"
* #OMIM:610951 "CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7"
* #OMIM:611091 "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5"
* #OMIM:611302 "SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2"
* #OMIM:611307 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12"
* #OMIM:611560 "JOUBERT SYNDROME 7; JBTS7"
* #OMIM:611603 "LISSENCEPHALY 3; LIS3"
* #OMIM:611705 "SALIH MYOPATHY; SALMY"
* #OMIM:611721 "COMBINED SAPOSIN DEFICIENCY"
* #OMIM:611726 "EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3"
* #OMIM:611755 "LEBER CONGENITAL AMAUROSIS 10; LCA10"
* #OMIM:612015 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N"
* #OMIM:612095 "RETINITIS PIGMENTOSA 41; RP41"
* #OMIM:612126 "GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2"
* #OMIM:612285 "JOUBERT SYNDROME 9; JBTS9"
* #OMIM:612337 "MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22"
* #OMIM:612370 "HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5"
* #OMIM:612438 "LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6"
* #OMIM:612528 "DIAMOND-BLACKFAN ANEMIA 5; DBA5"
* #OMIM:612621 "MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5"
* #OMIM:612712 "LEBER CONGENITAL AMAUROSIS 13; LCA13"
* #OMIM:612716 "DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY"
* #OMIM:612780 "SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES"
* #OMIM:612936 "SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50"
* #OMIM:612943 "RETINITIS PIGMENTOSA 42; RP42"
* #OMIM:612951 "LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY"
* #OMIM:613065 "LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL"
* #OMIM:613091 "SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3"
* #OMIM:613155 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1"
* #OMIM:613156 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2"
* #OMIM:613158 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2"
* #OMIM:613192 "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13"
* #OMIM:613205 "MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED"
* #OMIM:613216 "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C"
* #OMIM:613217 "DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5"
* #OMIM:613402 "MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ"
* #OMIM:613428 "RETINITIS PIGMENTOSA 54; RP54"
* #OMIM:613454 "RETT SYNDROME, CONGENITAL VARIANT"
* #OMIM:613550 "NEPHRONOPHTHISIS 11; NPHP11"
* #OMIM:613561 "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2"
* #OMIM:613587 "OCCULT MACULAR DYSTROPHY; OCMD"
* #OMIM:613612 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I"
* #OMIM:613660 "CONE-ROD DYSTROPHY 15; CORD15"
* #OMIM:613668 "MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY"
* #OMIM:613680 "BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS"
* #OMIM:613684 "RUBINSTEIN-TAYBI SYNDROME 2; RSTS2"
* #OMIM:613690 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7"
* #OMIM:613706 "NOONAN SYNDROME 7; NS7"
* #OMIM:613722 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12"
* #OMIM:613731 "RETINITIS PIGMENTOSA 4; RP4"
* #OMIM:613744 "SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51"
* #OMIM:613750 "RETINITIS PIGMENTOSA 27; RP27"
* #OMIM:613756 "RETINITIS PIGMENTOSA 49; RP49"
* #OMIM:613767 "RETINITIS PIGMENTOSA 45; RP45"
* #OMIM:613794 "RETINITIS PIGMENTOSA 20; RP20"
* #OMIM:613809 "RETINITIS PIGMENTOSA 39; RP39"
* #OMIM:613810 "RETINITIS PIGMENTOSA 43; RP43"
* #OMIM:613811 "PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D"
* #OMIM:613820 "NEPHRONOPHTHISIS 12; NPHP12"
* #OMIM:613835 "LEBER CONGENITAL AMAUROSIS 8; LCA8"
* #OMIM:613861 "RETINITIS PIGMENTOSA 59; RP59"
* #OMIM:613862 "RETINITIS PIGMENTOSA 38; RP38"
* #OMIM:614034 "HEME OXYGENASE 1 DEFICIENCY; HMOX1D"
* #OMIM:614065 "MYOPATHY, DISTAL, 4; MPD4"
* #OMIM:614173 "JOUBERT SYNDROME 13; JBTS13"
* #OMIM:614180 "RETINITIS PIGMENTOSA 61; RP61"
* #OMIM:614181 "RETINITIS PIGMENTOSA 62; RP62"
* #OMIM:614199 "NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5"
* #OMIM:614202 "RAFIQ SYNDROME; RAFQS"
* #OMIM:614225 "WARBURG MICRO SYNDROME 2; WARBM2"
* #OMIM:614254 "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD"
* #OMIM:614255 "NESCAV SYNDROME; NESCAVS"
* #OMIM:614299 "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2"
* #OMIM:614381 "LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8"
* #OMIM:614424 "JOUBERT SYNDROME 14; JBTS14"
* #OMIM:614500 "CONE-ROD DYSTROPHY 16; CORD16"
* #OMIM:614557 "EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2"
* #OMIM:614607 "COFFIN-SIRIS SYNDROME 2; CSS2"
* #OMIM:614615 "JOUBERT SYNDROME 17; JBTS17"
* #OMIM:614669 "AURICULOCONDYLAR SYNDROME 2; ARCND2"
* #OMIM:614678 "PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B"
* #OMIM:614744 "FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3"
* #OMIM:614753 "SOTOS SYNDROME 2; SOTOS2"
* #OMIM:614831 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13"
* #OMIM:614833 "MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP"
* #OMIM:614876 "PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A"
* #OMIM:614877 "PEROXISOME BIOGENESIS DISORDER 8B; PBD8B"
* #OMIM:614932 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13"
* #OMIM:614945 "DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B"
* #OMIM:615030 "SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56"
* #OMIM:615031 "SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49"
* #OMIM:615065 "ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D"
* #OMIM:615071 "ALAZAMI SYNDROME; ALAZS"
* #OMIM:615095 "MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10"
* #OMIM:615181 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11"
* #OMIM:615190 "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5"
* #OMIM:615191 "LISSENCEPHALY 5; LIS5"
* #OMIM:615268 "CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4"
* #OMIM:615286 "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36"
* #OMIM:615352 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14"
* #OMIM:615411 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3"
* #OMIM:615412 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4"
* #OMIM:615419 "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1"
* #OMIM:615471 "MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13"
* #OMIM:615476 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18"
* #OMIM:615485 "BAINBRIDGE-ROPERS SYNDROME; BRPS"
* #OMIM:615502 "MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21"
* #OMIM:615546 "VAN MALDERGEM SYNDROME 2; VMLDS2"
* #OMIM:615574 "ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD"
* #OMIM:615681 "SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62"
* #OMIM:615715 "BONE MARROW FAILURE SYNDROME 2; BMFS2"
* #OMIM:615716 "HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4"
* #OMIM:615760 "MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA"
* #OMIM:615763 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5"
* #OMIM:615809 "PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9"
* #OMIM:615829 "XIA-GIBBS SYNDROME; XIGIS"
* #OMIM:615834 "MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26"
* #OMIM:615846 "AICARDI-GOUTIERES SYNDROME 7; AGS7"
* #OMIM:615866 "COFFIN-SIRIS SYNDROME 9; CSS9"
* #OMIM:615909 "DIAMOND-BLACKFAN ANEMIA 13; DBA13"
* #OMIM:615948 "OROFACIODIGITAL SYNDROME XIV; OFD14"
* #OMIM:615959 "MYOPATHY, CENTRONUCLEAR, 5; CNM5"
* #OMIM:615960 "PORETTI-BOLTSHAUSER SYNDROME; PTBHS"
* #OMIM:615973 "CONE-ROD DYSTROPHY 20; CORD20"
* #OMIM:615981 "BARDET-BIEDL SYNDROME 2; BBS2"
* #OMIM:615982 "BARDET-BIEDL SYNDROME 4; BBS4"
* #OMIM:615983 "BARDET-BIEDL SYNDROME 5; BBS5"
* #OMIM:615993 "BARDET-BIEDL SYNDROME 16; BBS16"
* #OMIM:616051 "MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13"
* #OMIM:616056 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26"
* #OMIM:616081 "PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C"
* #OMIM:616094 "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12"
* #OMIM:616127 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17"
* #OMIM:616140 "LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9"
* #OMIM:616155 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S"
* #OMIM:616171 "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2"
* #OMIM:616199 "POLYGLUCOSAN BODY MYOPATHY 2; PGBM2"
* #OMIM:616211 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28"
* #OMIM:616263 "NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD"
* #OMIM:616266 "CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD"
* #OMIM:616271 "3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7"
* #OMIM:616277 "MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D"
* #OMIM:616281 "NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM"
* #OMIM:616321 "MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A"
* #OMIM:616354 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20"
* #OMIM:616394 "RETINITIS PIGMENTOSA 71; RP71"
* #OMIM:616420 "LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10"
* #OMIM:616421 "MYOCLONIC-ATONIC EPILEPSY; MAE"
* #OMIM:616471 "BETHLEM MYOPATHY 2; BTHLM2"
* #OMIM:616490 "JOUBERT SYNDROME 23; JBTS23"
* #OMIM:616531 "POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA"
* #OMIM:616544 "RETINITIS PIGMENTOSA 73; RP73"
* #OMIM:616562 "RETINITIS PIGMENTOSA 74; RP74"
* #OMIM:616564 "NOONAN SYNDROME 10; NS10"
* #OMIM:616632 "SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS"
* #OMIM:616647 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35"
* #OMIM:616649 "SPHEROCYTOSIS, TYPE 2; SPH2"
* #OMIM:616651 "ROIFMAN SYNDROME; RFMN"
* #OMIM:616654 "JOUBERT SYNDROME 24; JBTS24"
* #OMIM:616657 "SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM"
* #OMIM:616668 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X"
* #OMIM:616683 "LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12"
* #OMIM:616721 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N"
* #OMIM:616732 "OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10"
* #OMIM:616738 "RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2"
* #OMIM:616740 "IMMUNODEFICIENCY 46; IMD46"
* #OMIM:616789 "MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD"
* #OMIM:616801 "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2"
* #OMIM:616875 "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"
* #OMIM:616892 "NEPHROTIC SYNDROME, TYPE 12; NPHS12"
* #OMIM:616900 "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3"
* #OMIM:616973 "MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42"
* #OMIM:617011 "MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR"
* #OMIM:617013 "HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2"
* #OMIM:617047 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26"
* #OMIM:617052 "BONE MARROW FAILURE SYNDROME 3; BMFS3"
* #OMIM:617053 "MIRAGE SYNDROME; MIRAGE"
* #OMIM:617093 "GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH"
* #OMIM:617106 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42"
* #OMIM:617120 "JOUBERT SYNDROME 27; JBTS27"
* #OMIM:617121 "JOUBERT SYNDROME 28; JBTS28"
* #OMIM:617123 "RETINITIS PIGMENTOSA 76; RP76"
* #OMIM:617137 "FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2"
* #OMIM:617146 "ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT"
* #OMIM:617183 "HAREL-YOON SYNDROME; HAYOS"
* #OMIM:617193 "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT"
* #OMIM:617222 "SUDDEN CARDIAC FAILURE, INFANTILE; SCFI"
* #OMIM:617276 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48"
* #OMIM:617330 "HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS"
* #OMIM:617350 "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52"
* #OMIM:617397 "PSEUDO-TORCH SYNDROME 2; PTORCH2"
* #OMIM:617433 "RETINITIS PIGMENTOSA 78; RP78"
* #OMIM:617443 "BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21"
* #OMIM:617460 "RETINITIS PIGMENTOSA 79; RP79"
* #OMIM:617481 "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA"
* #OMIM:617537 "RAHMAN SYNDROME; RMNS"
* #OMIM:617547 "RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS"
* #OMIM:617622 "JOUBERT SYNDROME 30; JBTS30"
* #OMIM:617675 "MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT"
* #OMIM:617681 "BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2"
* #OMIM:617694 "AL KAISSI SYNDROME; ALKAS"
* #OMIM:617781 "RETINITIS PIGMENTOSA 80; RP80"
* #OMIM:617805 "RENAL HYPODYSPLASIA/APLASIA 3; RHDA3"
* #OMIM:617807 "NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW"
* #OMIM:617829 "EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2"
* #OMIM:617873 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35"
* #OMIM:617948 "ELLIPTOCYTOSIS 3; EL3"
* #OMIM:617954 "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6"
* #OMIM:618056 "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS"
* #OMIM:618088 "NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS"
* #OMIM:618129 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4"
* #OMIM:618138 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23"
* #OMIM:618174 "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9"
* #OMIM:618225 "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4"
* #OMIM:618273 "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM"
* #OMIM:618316 "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF"
* #OMIM:618325 "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9"
* #OMIM:618404 "LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18"
* #OMIM:618512 "O\\'DONNELL-LURIA-RODAN SYNDROME; ODLURO"
* #OMIM:614921 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T"