DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

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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 May 2024

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DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome?

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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

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

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Clinical Trials

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