ICD-10: E70.8

Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 1 Hirata disease monogenic disease Danon disease Frasier syndrome Donohue syndrome sennetsu fever Gamstorp-Wohlfart syndrome obsolete Majewski syndrome ABCD syndrome Bamforth-Lazarus syndrome Bart-Pumphrey syndrome biotin-responsive basal ganglia disease bestrophinopathy Birk-Barel syndrome Bjornstad syndrome AGAT deficiency PHGDH deficiency PSAT deficiency tyrosinemia type II tyrosinemia type III X-linked monogenic disease autosomal recessive disease Qazi Markouizos syndrome rapadilino syndrome obsolete Opitz-GBBB syndrome Ogden syndrome cerebral creatine deficiency syndrome 1 orotic aciduria Perrault syndrome janus kinase-3 deficiency Pearson syndrome Cogan-Reese syndrome Warburg micro syndrome Ohdo syndrome, SBBYS variant dyschromatosis universalis hereditaria Rapp-Hodgkin syndrome CEDNIK syndrome acrorenal syndrome Stormorken syndrome Vici syndrome Galloway-Mowat syndrome 1 Goldberg-Shprintzen syndrome MEDNIK syndrome Barber-Say syndrome 3MC syndrome 2 3MC syndrome 3 Nance-Horan syndrome Brunner Syndrome Prieto syndrome Wilson-Turner syndrome