DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for autosomal recessive nonsyndromic deafness 99

Autosomal recessive nonsyndromic deafness 99 [DOID:0111634]

An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12.

Synonyms:  autosomal recessive nonsyndromic deafness 99,  DOID:0111634,  DFNB99,  autosomal recessive deafness 99