← 返回搜尋

X-linked intellectual disability, Stocco Dos Santos type

ORPHA:85288 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Frequent (79-30%)(14)

  • Congenital bilateral hip dislocationHP:0008780
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • HirsutismHP:0001007
  • HyperactivityHP:0000752
  • KyphosisHP:0002808
  • Recurrent respiratory infectionsHP:0002205
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(3)

  • Absent speechHP:0001344
  • CataractHP:0000518
  • Increased serum serotoninHP:0003144