autosomal dominant nonsyndromic deafness 78

An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chro

An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.

Signs and symptoms

• Profound sensorineural hearing impairment
• Motor delay
• Schizophrenia
• Global developmental delay
• Macrocephaly

Also known as: DFNA78