DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

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DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Synonyms: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

National Center of Hematology and Blood Transfusion

Treatment of patients with blood diseases,scientific-research works

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

For a list of clinical trials in this disease area, please click here.