autosomal recessive nonsyndromic deafness 100

An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1.

Signs and symptoms

• Sensorineural hearing impairment
• Abnormal vestibular function
• Abnormal fundus morphology

Also known as: DFNB100; autosomal recessive deafness 100