| Metadata | |
|---|---|
| ID | DOID:0111738 |
| Name | X-linked deafness 7 |
| Definition | An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. https://www.ncbi.nlm.nih.gov/pubmed/28096187 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DFNX7 [EXACT] X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome [EXACT] |
| Parent Relationships |