← 返回搜尋

Hirschsprung disease-deafness-polydactyly syndrome

ORPHA:2155 · Malformation syndrome · Disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(2)

  • Aganglionic megacolonHP:0002251
  • Foot polydactylyHP:0001829

Frequent (79-30%)(5)

  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Postaxial hand polydactylyHP:0001162
  • Renal agenesisHP:0000104
  • Sensorineural hearing impairmentHP:0000407