1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111634 | autosomal recessive nonsyndromic deafness 99 | 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. |