Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural deafness-thrombocytopenia syndrome ORPHA code 494444 OMIM code 124900 ICD10 code H90.3 ICD11 code - *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