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DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

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Disease 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.

ORPHA:494444

Classification level: Disorder

Synonym(s):
  • DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant

Age of onset: Childhood, Infancy, Neonatal

ICD-10: H90.3

OMIM: 124900

UMLS: C1852282

MeSH: C565121

A summary on this disease is available in Français (2020) Español (2020) Deutsch (2020) Nederlands (2020)
Detailed information
Guidelines
Clinical practice guidelines
Genetic testing
Guidance for genetic testing

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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