ICD-10: M61.2

Walker-Warburg syndrome cranioectodermal dysplasia triple-A syndrome Allan-Herndon-Dudley syndrome Bamforth-Lazarus syndrome Bjornstad syndrome Bowen-Conradi syndrome Brody myopathy electroclinical syndrome AGAT deficiency Hirata disease monogenic disease Danon disease Frasier syndrome Donohue syndrome Carney complex Netherton syndrome Gamstorp-Wohlfart syndrome Charcot-Marie-Tooth disease type 3 obsolete Saldino-Noonan syndrome Kahrizi syndrome Perrault syndrome IMAGe syndrome Townes-Brocks syndrome Pearson syndrome Kennedy's disease homocarnosinosis Cogan-Reese syndrome Adams-Oliver syndrome Baraitser-Winter syndrome Warburg micro syndrome Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia rippling muscle disease 2 Ohdo syndrome Ohdo syndrome, SBBYS variant Rapp-Hodgkin syndrome mitochondrial complex V (ATP synthase) deficiency nuclear type 3 CEDNIK syndrome PHGDH deficiency PSAT deficiency Chanarin-Dorfman syndrome X-linked monogenic disease autosomal genetic disease Qazi Markouizos syndrome adenylosuccinase lyase deficiency ARC syndrome rapadilino syndrome Ogden syndrome acrorenal syndrome Stormorken syndrome Galloway-Mowat syndrome 1 orofaciodigital syndrome IV chromosome 2q31.2 deletion syndrome chromosome 5q12 deletion syndrome Cole-Carpenter syndrome stromal dystrophy Goldberg-Shprintzen syndrome MEDNIK syndrome Norrie disease Pierson syndrome Potocki-Lupski syndrome lethal congenital contracture syndrome 4 Muenke Syndrome Wilson-Turner syndrome Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 1 EAST syndrome Kufor-Rakeb syndrome lethal congenital contracture syndrome 2 Ritscher-Schinzel syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 2 Yunis-Varon syndrome Nance-Horan syndrome