Term Name: | split hand-foot malformation 1 with sensorineural hearing loss |
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Synonyms: | congenital deafness with split hands and feet, SHFM1D |
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. |
Ontology: | Human Disease [DOID:0090024] ( DOID:0090024 ) |