Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. Disease data Klasyfikacja Disease Synonimy DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural deafness-thrombocytopenia syndrome Kod ORPHA 494444 Kod OMIM 124900 Kod ICD10 H90.3 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl