Term Name: autosomal recessive nonsyndromic deafness 99
Synonyms: autosomal recessive deafness 99, DFNB99
Definition: 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.
Ontology: Human Disease [DOID:0111634]   ( DOID:0111634 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness