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Monosomy 13q14 syndrome

ORPHA:1587 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(8)

  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Prominent nasal bridgeHP:0000426
  • Short statureHP:0004322
  • Thickened helicesHP:0000391
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(17)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal dermatoglyphicsHP:0007477
  • BrachydactylyHP:0001156
  • CataractHP:0000518
  • Clinodactyly of the 5th fingerHP:0004209
  • EpicanthusHP:0000286
  • Finger syndactylyHP:0006101
  • HypotoniaHP:0001252
  • Iris colobomaHP:0000612
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • RetinoblastomaHP:0009919
  • Short neckHP:0000470
  • TrigonocephalyHP:0000243

Occasional (29-5%)(5)

  • Abnormality of the gastrointestinal tractHP:0011024
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • HoloprosencephalyHP:0001360
  • Hypoplasia of the corpus callosumHP:0002079
  • Webbed neckHP:0000465