Term Name: split hand-foot malformation 1 with sensorineural hearing loss
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 )

Relationships
is a type of: autosomal recessive disease split hand-foot malformation