split hand-foot malformation 1 with sensorineural hearing loss (DOID:0090024)
Alliance: disease page
Synonyms: congenital deafness with split hands and feet; SHFM1D
Alt IDs: OMIM:220600, ICD10CM:Q87.2, ORDO:71271
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.