autosomal dominant nonsyndromic deafness 1

An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.

Signs and symptoms

• Sensorineural hearing impairment
• Macrothrombocytopenia
• Thrombocytopenia
• Menorrhagia
• Post-partum hemorrhage
• Impaired platelet aggregation

Also known as: DFNA1; Konigsmark syndrome; LFHL1; autosomal dominant deafness 1; autosomal dominant deafness 1, with or without thrombocytopenia