Metadata | |
---|---|
ID | DOID:0111642 |
Name | autosomal recessive nonsyndromic deafness 114 |
Definition | An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/30610177 |
Xrefs | |
Synonyms |
autosomal recessive deafness 114 [EXACT] DFNB114 [EXACT] |
Parent Relationships |