(Q30988764)

English

split hand-foot malformation 1 with sensorineural hearing loss

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

  • SHFM1D
  • congenital deafness with split hands and feet
  • SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
  • SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; SHFM1D
  • Deafness, Congenital, With Split Hands and Feet
  • Split hand-split foot-deafness syndrome

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