ICD-10: E77

Hirata disease monogenic disease X-linked dominant hypophosphatemic rickets Farber lipogranulomatosis Netherton syndrome Gamstorp-Wohlfart syndrome obsolete Majewski syndrome Walker-Warburg syndrome congenital disorder of glycosylation type I congenital disorder of glycosylation type II L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria occult macular dystrophy muscular dystrophy-dystroglycanopathy type B1 glycogen storage disease IX triple-A syndrome anauxetic dysplasia 1 arterial calcification of infancy Bamforth-Lazarus syndrome Bart-Pumphrey syndrome Beare-Stevenson cutis gyrata syndrome Bethlem myopathy Birk-Barel syndrome Bjornstad syndrome Borjeson-Forssman-Lehmann syndrome MEDNIK syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 1 Char syndrome hypertrichotic osteochondrodysplasia Cantu type MASA syndrome Simpson-Golabi-Behmel syndrome type 1 Dowling-Degos disease pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 10 Ohdo syndrome Ohdo syndrome, SBBYS variant oculodentodigital dysplasia Rapp-Hodgkin syndrome CEDNIK syndrome Stormorken syndrome orofaciodigital syndrome IX chromosome 16q22 deletion syndrome chromosome 18p deletion syndrome Reis-Bucklers corneal dystrophy Thiel-Behnke corneal dystrophy Desbuquois dysplasia Goldberg-Shprintzen syndrome syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Pierson syndrome Potocki-Lupski syndrome 3MC syndrome 2 Yunis-Varon syndrome XFE progeroid syndrome WHIM syndrome 1 Nance-Horan syndrome branchiooculofacial syndrome Brown-Vialetto-Van Laere syndrome vitamin metabolic disorder PSAT deficiency tyrosinemia type III glycogen metabolism disorder X-linked monogenic disease Y-linked monogenic disease Qazi Markouizos syndrome ataxia with oculomotor apraxia type 1 obsolete CLN3 disease rapadilino syndrome obsolete Opitz-GBBB syndrome cone dystrophy cerebral creatine deficiency syndrome Stargardt disease orotic aciduria CHARGE syndrome Marshall-Smith syndrome Townes-Brocks syndrome spastic ataxia 3 spinocerebellar ataxia type 18 Cogan-Reese syndrome Baraitser-Winter syndrome Warburg micro syndrome