Visualize Submit Comment

Metadata
ID	DOID:0111634
Name	autosomal recessive nonsyndromic deafness 99
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. https://www.ncbi.nlm.nih.gov/pubmed/12673573
Xrefs	OMIM:618481
Synonyms	autosomal recessive deafness 99 [EXACT] DFNB99 [EXACT]
Parent Relationships	is_a autosomal recessive nonsyndromic deafness