omimdefinitions

| * 604272 SCO2, S. CEREVISIAE, HOMOLOG OF| SCO2
| Waardenburg syndrome, type 4C, 613266 (3)
| Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
| PCWH syndrome, 609136 (3)
| {Deafness, mitochondrial, modifier of}, 580000 (3)
| Liver failure, transient infantile, 613070 (3)
| Adenylosuccinase deficiency, 103050 (3)
| Mental retardation, autosomal dominant 10, 614256 (3)
| {Debrisoquine sensitivity}, 608902 (3)
| * 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6| CYP2D6
| * 150571 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2| LGALS2
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
| Infantile neuroaxonal dystrophy 1, 256600 (3)
| Neurodegeneration with brain iron accumulation 2B, 610217 (3)
| Parkinson disease 14, 612953 (3)
| Glucose/galactose malabsorption, 606824 (3)
| Deafness, autosomal recessive 28, 609823 (3)
| Immunodeficiency, common variable, 4, 613494 (3)
| * 607922 ALPHA-1,4-GALACTOSYLTRANSFERASE| A4GALT
| [Blood group, P1Pk system, P(2) phenotype], 111400 (3)
| NOR polyagglutination syndrome, 111400 (3)
| Infantile cerebellar-retinal degeneration, 614559 (3)
| Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
| Phelan-McDermid syndrome, 606232 (3)
| {Schizophrenia 15}, 613950 (3)
| Nephronophthisis-like nephropathy 1, 613159 (3)
| Metachromatic leukodystrophy, 250100 (3)
| Methemoglobinemia, type I, 250800 (3)
| * 613213 CYTOCHROME b5 REDUCTASE 3| CYB5R3
| Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
| * 102480 ACROSIN| ACR
| Congenital disorder of glycosylation, type Ig, 607143 (3)
| Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
| ?Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
| Microcephaly and chorioretinopathy with or without mental retardation, 251270 (3)
| Short stature, idiopathic familial, 300582 (3)
| Leri-Weill dyschondrosteosis, 127300 (3)
| Langer mesomelic dysplasia, 249700 (3)
| {Hodgkin disease susceptibility, pseudoautosomal} (2)
| [Blood group, XG system] (3)
| {Autism susceptibility, X-linked 2}, 300495 (3)
| {Asperger syndrome susceptibility, X-linked 2}, 300497 (3)
| * 300427 NEUROLIGIN 4| NLGN4
| Turner syndrome-associated neurocognitive phenotype (2)
| [Visuospatial/perceptual abilities] (2)
| Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
| Ichthyosis, X-linked, 308100 (3)
| Fanconi anemia, complementation group B, 300514 (3)
| Chondrodysplasia punctata, X-linked recessive, 302950 (3)
| Episodic muscle weakness, X-linked (2)
| Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
| Nystagmus 6, congenital, X-linked, 300814 (3)
| Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
| Corneal dystrophy, Lisch epithelial (2)
| Mental retardation, X-linked 2 (2)
| Mental retardation, X-linked 49 (2)
| Ocular albinism with sensorineural deafness (2)
| Oral-facial-digital syndrome 1, 311200 (3)
| Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
| Joubert syndrome 10, 300804 (3)
| ?Retinitis pigmentosa 23, 300424 (3)
| Amelogenesis imperfecta, type 1E, 301200 (3)
| Mental retardation, X-linked 29 (2)
| ?N syndrome, 310465 (1)
| Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 (2)
| Fetal hemoglobin quantitative trait locus 3 (2)
| Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
| Leigh syndrome, X-linked, 308930 (3)
| Hypophosphatemic rickets, X-linked dominant, 307800 (3)
| Glycogen storage disease, type IXa1, 306000 (3)
| * 300798 PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT| PHKA2
| Coffin-Lowry syndrome, 303600 (3)
| Mental retardation, X-linked 19, 300844 (3)
| Retinoschisis, 312700 (3)
| Spondyloepiphyseal dysplasia tarda, 313400 (3)
| Epileptic encephalopathy, early infantile, 1, 308350 (3)
| Lissencephaly, X-linked 2, 300215 (3)
| Mental retardation, X-linked 29 and others, 300419 (3)
| Proud syndrome, 300004 (3)
| Partington syndrome, 309510 (3)
| * 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED| ARX
| Nance-Horan syndrome, 302350 (3)
| Cataract 40, X-linked, 302200 (3)
| MEHMO syndrome (2)
| IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
| Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
| ?Olmsted syndrome, X-linked, 300918 (3)
| {Autism susceptibility, X-linked 4} (4)
| ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3)
| Gonadal dysgenesis, XY female type (2)
| Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
| Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
| * 313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1| SAT1
| Deafness, X-linked 4, 300066 (3)
| Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
| Mental retardation, X-linked 21/34, 300143 (3)
| Mental retardation, X-linked 45, 300498 (3)
| Agammaglobulinemia, X-linked 2 (2)
| Aicardi syndrome (2)
| Aneurysm, intracranial berry, 5 (2)

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