omimdefinitions

| Mental retardation, X-linked, syndromic 32, 300886 (3)
| Chromosome Xq28 duplication syndrome (4)
| Dyskeratosis congenita, X-linked, 305000 (3)
| Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
| Hemophilia A, 306700 (3)
| STAR syndrome, 300707 (3)
| Heterotopia, periventricular, 300049 (3)
| Otopalatodigital syndrome, type I, 311300 (3)
| Otopalatodigital syndrome, type II, 304120 (3)
| Intestinal pseudoobstruction, neuronal, 300048 (3)
| Melnick-Needles syndrome, 309350 (3)
| Frontometaphyseal dysplasia, 305620 (3)
| Heterotopia, periventricular, ED variant, 300537 (3)
| FG syndrome 2, 300321 (3)
| Cardiac valvular dysplasia, X-linked, 314400 (3)
| Terminal osseous dysplasia, 300244 (3)
| * 300017 FILAMIN A| FLNA
| Hemolytic anemia due to G6PD deficiency, 300908 (3)
| Favism, 134700 (3)
| * 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE| G6PD
| Mental retardation, X-linked 41, 300849 (3)
| [?Homosexuality, male] (2)
| Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
| ?Microphthalmia, syndromic 13, 300915 (3)
| Mucopolysaccharidosis II, 309900 (3)
| Incontinentia pigmenti, type II, 308300 (3)
| Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3)
| Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
| Immunodeficiency, isolated, 300584 (3)
| {Atypical mycobacteriosis, familial}, 300636 (3)
| Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3)
| Hydrocephalus due to aqueductal stenosis, 307000 (3)
| MASA syndrome, 303350 (3)
| * 308840 L1 CELL ADHESION MOLECULE| L1CAM
| Hydrocephalus with Hirschsprung disease, 307000 (3)
| Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)
| Corpus callosum, partial agenesis of, 304100 (3)
| {?Major affective disorder 2} (2)
| Hypospadias 2, X-linked, 300758 (3)
| Myopathy, X-linked, with excessive autophagy (2)
| Rett syndrome, 312750 (3)
| Mental retardation, X-linked, syndromic 13, 300055 (3)
| * 300005 METHYL-CpG-BINDING PROTEIN 2| MECP2
| Encephalopathy, neonatal severe, 300673 (3)
| {Autism susceptibility, X-linked 3}, 300496 (3)
| Angelman syndrome, 105830 (3)
| Mental retardation, X-linked syndromic, Lubs type, 300260 (3)
| Mental retardation-skeletal dysplasia (2)
| Mental retardation syndrome, X-linked, Armfield type (2)
| Myotubular myopathy, X-linked, 310400 (3)
| Moyamoya disease 4 (4)
| Myopia-1 (2)
| N-terminal acetyltransferase deficiency, 300855 (3)
| * 300013 N-ALPHA-ACETYLTRANSFERASE 10, NatA CATALYTIC SUBUNIT| NAA10
| CHILD syndrome, 308050 (3)
| CK syndrome, 300831 (3)
| Colorblindness, protan, 303900 (3)
| Blue cone monochromacy, 303700 (3)
| Colorblindness, deutan, 303800 (3)
| * 300821 OPSIN 1, MEDIUM-WAVE-SENSITIVE| OPN1MW
| Mental retardation, X-linked 72, 300271 (3)
| Retinitis pigmentosa 34 (2)
| {Autism, susceptibility to, X-linked 5}, 300847 (3)
| Cerebral creatine deficiency syndrome 1, 300352 (3)
| {Systemic lupus erthematosus, susceptibility to, 15} (2)
| Barth syndrome, 302060 (3)
| * 300092 TESTIS-EXPRESSED GENE 28| TEX28
| Goeminne TKCR syndrome (2)
| Epsilon-trimethyllysine hydroxylase deficiency, 300872 (3)
| Waisman parkinsonism-mental retardation syndrome (2)
| Catel-Manzke syndrome (2)
| Cerebral-cerebellar-coloboma syndrome, X-linked (2)
| Cubitus valgus with mental retardation and unusual facies (2)
| Deafness, cataract, retinitis pigmentosa, and sperm abnormalities (2)
| Thrombocythemia, X-linked (2)
| Microphthalmia with coloboma 1 (2)
| Mental retardation, X-linked 95 (2)
| Roifman syndrome (2)
| Spermatogenic failure, X-linked, 2 (2)
| * 400020 SHORT STATURE HOMEOBOX, Y-LINKED| SHOXY
| Leri-Weill dyschondrosteosis, 127300 (3)
| Langer mesomelic dysplasia, 249700 (3)
| 46XY sex reversal 1, 400044 (3)
| 46XX sex reversal 1, 400045 (3)
| ?Hairy ears, Y-linked (2)
| * 400003 DELETED IN AZOOSPERMIA| DAZ
| Spermatogenic failure, Y-linked, 1 (4)
| Spermatogenic failure, Y-linked, 2, 415000 (3)
| Deafness, Y-linked 1 (1)
| Retinitis pigmentosa, Y-linked (2)
epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin | Keratinopathic Ichthyosis
| ARCI ukendt variant
| Loricrin keratoderma, Erythrokeratodermia variabilis, Peeling skin disease, CRIE, KLICK
| Ukendt Ichthyosiform lidelse
| * 100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1| ALDH1A1
| * 100660 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 1| ALDH3A1
| * 100670 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1| ALDH1B1
| * 100678 ACETYL-CoA ACETYLTRANSFERASE 2| ACAT2
| * 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1| CHRNA1
| * 100740 ACETYLCHOLINESTERASE| ACHE

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