NCPI FHIR Implementation Guide
0.1.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions

CodeSystem: Online Mendelian Inheritance in Man

Official URL: https://omim.org/ Version: 0.1.0
Draft as of 2022-08-09 Computable Name: OMIM

An online database that describes the function and phenotypes associated with human genes

This Code system is referenced in the content logical definition of the following value sets:

This code system https://omim.org/ defines many codes, of which the following are a subset:

CodeDisplay
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