DISEASES

Disease-gene associations mined from literature

Human genes for split hand-foot malformation 1 with sensorineural hearing loss

Split hand-foot malformation 1 with sensorineural hearing loss [DOID:0090024]

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.

Synonyms:  split hand-foot malformation 1 with sensorineural hearing loss,  DOID:0090024,  split handfoot malformation 1 with sensorineural hearing loss,  SHFM1D,  congenital deafness with split hands and feet ...