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Intellectual disability, Wolff type

ORPHA:3080 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(16)

  • Bulbous noseHP:0000414
  • Camptodactyly of fingerHP:0100490
  • Delayed skeletal maturationHP:0002750
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • Large handsHP:0001176
  • Limitation of joint mobilityHP:0001376
  • Low posterior hairlineHP:0002162
  • MacrotiaHP:0000400
  • MicroretrognathiaHP:0000308
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Short distal phalanx of fingerHP:0009882
  • Thick lower lip vermilionHP:0000179
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(13)

  • Abnormal intestine morphologyHP:0002242
  • Abnormal nail morphologyHP:0001597
  • Broad thumbHP:0011304
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Hypoplastic superior helixHP:0008559
  • Inguinal herniaHP:0000023
  • Non-midline cleft of the upper lipHP:0100335
  • Orofacial cleftHP:0000202
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sloping foreheadHP:0000340
  • StrabismusHP:0000486