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Monosomy 5p syndrome

ORPHA:281 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(12)

  • Abnormality of the voiceHP:0001608
  • Abnormally high-pitched voiceHP:0001620
  • Cat cryHP:0200046
  • EpicanthusHP:0000286
  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252
  • MicroretrognathiaHP:0000308
  • Posteriorly rotated earsHP:0000358
  • Round faceHP:0000311
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(8)

  • Downslanted palpebral fissuresHP:0000494
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Small handHP:0200055

Occasional (29-5%)(7)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of bone mineral densityHP:0004348
  • Finger syndactylyHP:0006101
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Preauricular skin tagHP:0000384
  • Recurrent fracturesHP:0002757