Metadata | |
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ID | DOID:0111636 |
Name | autosomal recessive nonsyndromic deafness 113 |
Definition | An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/29703829 |
Xrefs | |
Synonyms |
autosomal recessive deafness 113 [EXACT] DFNB113 [EXACT] |
Parent Relationships |