| Metadata | |
|---|---|
| ID | DOID:0111628 |
| Name | high myopia-sensorineural deafness syndrome |
| Definition | A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23543054 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
deafness and myopia [EXACT] deafness and myopia syndrome [EXACT] DFNMYP [EXACT] |
| Parent Relationships |
is_a syndrome |