Version: 8.0.0
Date: Tue Jan 28 2025
split hand-foot malformation 1 with sensorineural hearing loss
DOID:0090024
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • congenital deafness with split hands and feet
  • SHFM1D
Cross References
Parent Terms
Child Terms
None
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