← 返回搜尋

WAGR syndrome

ORPHA:893 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(1)

  • Aplasia/Hypoplasia of the irisHP:0008053

Frequent (79-30%)(12)

  • CataractHP:0000518
  • CryptorchidismHP:0000028
  • Displacement of the urethral meatusHP:0100627
  • Everted lower lip vermilionHP:0000232
  • Hearing abnormalityHP:0000364
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • NystagmusHP:0000639
  • PtosisHP:0000508
  • Short statureHP:0004322
  • Visual impairmentHP:0000505

Occasional (29-5%)(5)

  • Ambiguous genitaliaHP:0000062
  • Dysfunction of lateral corticospinal tractsHP:0007299
  • GlaucomaHP:0000501
  • ObesityHP:0001513
  • ScoliosisHP:0002650