Diseases

Name Orphanumber Description XREF(s)
X-linked intellectual disability, Stocco Dos Santos type 85288 X-linked intellectual disability,… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Cabezas type 85293 An X-linked syndromic intellectual… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Turner type 85328 X-linked intellectual disability,… Orphanet, OMIM, OMIM, ICD-10
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome 85329 A rare X-linked syndromic intellectual… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Hedera type 93952 X-linked intellectual disability,… Orphanet, OMIM
X-linked intellectual disability, Sutherland-Haan type 93950 Orphanet, ICD-10
X-linked intellectual disability, Golabi-Ito-Hall type 93947 An X-linked intellectual disability… Orphanet, ICD-10
X-linked intellectual disability, Porteous type 93945 Orphanet, ICD-10
X-linked intellectual disability, Van Esch type 163976 A rare, genetic, syndromic intellectual… Orphanet, OMIM, ICD-10
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 482606 A rare genetic disease characterized by… Orphanet
X-linked lissencephaly with abnormal genitalia 452 A rare genetic multiple congenital… Orphanet, OMIM, ICD-10
X-linked lymphoproliferative disease 2442 X-linked lymphoproliferative disease is… Orphanet, OMIM, OMIM, MeSH, MedDRA, ICD-10
X-linked lymphoproliferative disease due to XIAP deficiency 538934 A rare, genetic, primary… Orphanet, ICD-10, OMIM
X-linked lymphoproliferative disease due to SH2D1A deficiency 538931 A rare, genetic, primary… Orphanet, ICD-10, OMIM
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 319623 Orphanet, OMIM, ICD-10
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency 319612 Orphanet, OMIM, ICD-10
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 435938 X-linked microcephaly-growth… Orphanet, OMIM, ICD-10
X-linked mixed deafness with perilymphatic gusher 383 X-linked mixed deafness with… Orphanet, ICD-10, OMIM
X-linked myopathy with excessive autophagy 25980 X-linked myopathy with excessive… Orphanet, ICD-10, OMIM
X-linked myopathy with postural muscle atrophy 178461 X-linked myopathy with postural muscle… Orphanet, OMIM, ICD-10
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