DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Disease Export to PDF
Name:
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Description:
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.
ORPHAcode:
494444
Synonyms:
DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14