Metadata | |
---|---|
ID | DOID:0110473 |
Name | autosomal recessive nonsyndromic deafness 18A |
Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/12136232 |
Xrefs | |
Synonyms |
autosomal recessive deafness 18A [EXACT] DFNB18A [EXACT] |
Parent Relationships |