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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 TMEM132E 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

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