← 返回搜尋

Intellectual disability, Buenos-Aires type

ORPHA:3079 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(28)

  • Abnormal calvaria morphologyHP:0002683
  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal dental morphologyHP:0006482
  • Abnormal fingernail morphologyHP:0001231
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal speech patternHP:0002167
  • Biparietal narrowingHP:0004422
  • Clinodactyly of the 5th fingerHP:0004209
  • Cuboid-shaped thoracolumbar vertebral bodiesHP:0008425
  • Dental malocclusionHP:0000689
  • Downslanted palpebral fissuresHP:0000494
  • Fine hairHP:0002213
  • High palateHP:0000218
  • Hyperconvex thumb nailsHP:0008407
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • Open biteHP:0010807
  • Pectus carinatumHP:0000768
  • PhotophobiaHP:0000613
  • Reduced bone mineral densityHP:0004349
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340
  • Spastic gaitHP:0002064
  • Umbilical herniaHP:0001537
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(2)

  • BlepharophimosisHP:0000581
  • HydronephrosisHP:0000126