| Metadata | |
|---|---|
| ID | DOID:0090024 |
| Name | split hand-foot malformation 1 with sensorineural hearing loss |
| Definition | A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/22121204 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital deafness with split hands and feet [EXACT] SHFM1D [EXACT] |
| Parent Relationships |