X-linked monogenic disease

X-linked monogenic disease Show first 5 Terms

adrenoleukodystrophy Aland Island eye disease Allan-Herndon-Dudley syndrome Barth syndrome blue cone monochromacy ... Show All 167 Terms

adrenoleukodystrophy Aland Island eye disease Allan-Herndon-Dudley syndrome Barth syndrome blue cone monochromacy Borjeson-Forssman-Lehmann syndrome Brunner Syndrome CD40 ligand deficiency Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 CK syndrome combined oxidative phosphorylation deficiency 6 congenital disorder of glycosylation Icc congenital disorder of glycosylation Iy congenital nongoitrous hypothyroidism 9 congenital stationary night blindness 1A congenital stationary night blindness 2A Dent disease developmental and epileptic encephalopathy 1 developmental and epileptic encephalopathy 8 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Duchenne muscular dystrophy ectodermal dysplasia 1 ectodermal dysplasia and immunodeficiency 1 factor VIII deficiency Fanconi anemia complementation group B FG syndrome frontometaphyseal dysplasia 1 Galloway-Mowat syndrome 2 glycogen storage disease IXa glycogen storage disease IXd glycogen storage disease VIII hemophilia B hereditary sensory neuropathy X-linked hereditary spastic paraplegia 2 hereditary spastic paraplegia 16 hereditary spastic paraplegia 34 HRPT-related hyperuricemia hypogonadotropic hypogonadism 1 with or without anosmia ichthyosis follicularis-alopecia-photophobia syndrome 1 IGSF1 deficiency syndrome immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immunodeficiency 33 immunodeficiency 34 immunodeficiency 47 immunodeficiency 50 isolated growth hormone deficiency type III Joubert syndrome 10 Keipert syndrome Kennedy's disease Lesch-Nyhan syndrome MASA syndrome megalocornea MEHMO syndrome MEND syndrome methylmalonic acidemia and homocysteinemia cblX type midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis multiple congenital anomalies-hypotonia-seizures syndrome 2 nephrogenic syndrome of inappropriate antidiuresis non-syndromic X-linked intellectual disability 9 non-syndromic X-linked intellectual disability 21 non-syndromic X-linked intellectual disability 30 non-syndromic X-linked intellectual disability 46 non-syndromic X-linked intellectual disability 53 non-syndromic X-linked intellectual disability 58 non-syndromic X-linked intellectual disability 72 non-syndromic X-linked intellectual disability 73 non-syndromic X-linked intellectual disability 77 non-syndromic X-linked intellectual disability 81 non-syndromic X-linked intellectual disability 82 non-syndromic X-linked intellectual disability 84 non-syndromic X-linked intellectual disability 90 non-syndromic X-linked intellectual disability 92 non-syndromic X-linked intellectual disability 93 non-syndromic X-linked intellectual disability 96 non-syndromic X-linked intellectual disability 99 non-syndromic X-linked intellectual disability 100 non-syndromic X-linked intellectual disability 101 non-syndromic X-linked intellectual disability 103 non-syndromic X-linked intellectual disability 104 non-syndromic X-linked intellectual disability 105 non-syndromic X-linked intellectual disability ARX-related Norrie disease nuclear type mitochondrial complex I deficiency 12 nuclear type mitochondrial complex I deficiency 30 occipital horn syndrome oculocerebrorenal syndrome Opitz GBBB syndrome orofaciodigital syndrome VIII osteogenesis imperfecta type 19 Paganini-Miozzo syndrome partial androgen insensitivity syndrome Partington syndrome Pelizaeus-Merzbacher disease phosphoglycerate kinase 1 deficiency phosphoribosylpyrophosphate synthetase superactivity Prieto syndrome primary ovarian insufficiency 2B Renpenning syndrome retinitis pigmentosa 23 Ritscher-Schinzel syndrome 2 severe congenital encephalopathy due to MECP2 mutation Shukla-Vernon syndrome sideroblastic anemia 1 Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 spastic paraplegia with deafness syndactyly type 8 syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability Claes-Jensen type syndromic X-linked intellectual disability Siderius type syndromic X-linked intellectual disability Snyder type syndromic X-linked intellectual disorder Lujan-Fryns-type syndromic X-linked mental retardation 35 Van Esch-O'Driscoll syndrome Waisman syndrome Wilson-Turner syndrome Wiskott-Aldrich syndrome X-linked Aarskog syndrome X-linked adrenal hypoplasia congenita X-linked agammaglobulinemia X-linked atrophic macular degeneration X-linked chondrodysplasia punctata 1 X-linked chronic granulomatous disease X-linked chronic idiopathic intestinal pseudo-obstruction X-linked cone-rod dystrophy 3 X-linked congenital hemolytic anemia X-linked deafness 5 X-linked distal spinal muscular atrophy 3 X-linked dyserythropoietic anemia X-linked dyskeratosis congenita X-linked dystonia-parkinsonism X-linked Emery-Dreifuss muscular dystrophy 1 X-linked Emery-Dreifuss muscular dystrophy 6 X-linked hyper IgM syndrome X-linked ichthyosis X-Linked immunodeficiency 74 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia X-linked intellectual developmental disorder 108 X-linked intellectual developmental disorder 109 X-linked intellectual disability-short stature-overweight syndrome X-linked juvenile retinoschisis 1 X-linked keratosis follicularis spinulosa decalvans X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques X-linked myopathy with excessive autophagy X-linked nephrogenic diabetes insipidus X-linked nephrolithiasis type I X-linked parkinsonism-spasticity syndrome X-linked properdin deficiency X-linked recessive hypophosphatemic rickets X-linked severe combined immunodeficiency X-linked severe congenital neutropenia X-linked sideroblastic anemia with ataxia X-linked spermatogenic failure 2 X-linked spermatogenic failure 3 X-linked spinal muscular atrophy 2 X-linked spinocerebellar ataxia 1 X-linked spinocerebellar ataxia 5 X-linked spondyloepimetaphyseal dysplasia X-linked spondyloepiphyseal dysplasia tarda X-linked thrombocytopenia with beta-thalassemia X-linked VACTERL association Show first 5 Terms