← 返回搜尋

Caudal appendage-deafness syndrome

ORPHA:1123 · Malformation syndrome · Disorder

HPO 表現型(共 7 項)

Frequent (79-30%)(7)

  • Abnormal digit morphologyHP:0011297
  • Abnormal facial shapeHP:0001999
  • Caudal appendageHP:0002825
  • CryptorchidismHP:0000028
  • Infantile sensorineural hearing impairmentHP:0008610
  • Intellectual disabilityHP:0001249
  • Short statureHP:0004322