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Distal monosomy 7q36 syndrome

ORPHA:1636 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(16)

  • Abnormal calvaria morphologyHP:0002683
  • Abnormality of immune system physiologyHP:0010978
  • Bilateral single transverse palmar creasesHP:0007598
  • Borderline intellectual disabilityHP:0006889
  • Bulbous noseHP:0000414
  • Flat faceHP:0012368
  • Full cheeksHP:0000293
  • HypertoniaHP:0001276
  • Hypoplasia of penisHP:0008736
  • HypotoniaHP:0001252
  • Large faceHP:0100729
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(8)

  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • HoloprosencephalyHP:0001360
  • MacrotiaHP:0000400
  • Non-midline cleft of the upper lipHP:0100335
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Wide mouthHP:0000154

Occasional (29-5%)(6)

  • Clinodactyly of the 5th fingerHP:0004209
  • HerniaHP:0100790
  • Optic atrophyHP:0000648
  • Pectus excavatumHP:0000767
  • Symphalangism affecting the phalanges of the handHP:0009773
  • Wide intermamillary distanceHP:0006610