Metadata | |
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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 | |
Synonyms |
autosomal recessive deafness 99 [EXACT] DFNB99 [EXACT] |
Parent Relationships |