| Metadata | |
|---|---|
| ID | DOID:0081175 |
| Name | short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
| Definition | A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/26843489/, https://pubmed.ncbi.nlm.nih.gov/34162742/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |