← 返回搜尋

Monosomy 18p syndrome

ORPHA:1598 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(9)

  • Abnormal antihelix morphologyHP:0009738
  • BrachydactylyHP:0001156
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • HypodontiaHP:0000668
  • Intellectual disabilityHP:0001249
  • Protruding earHP:0000411
  • Short philtrumHP:0000322
  • Short statureHP:0004322

Frequent (79-30%)(20)

  • BrachycephalyHP:0000248
  • Carious teethHP:0000670
  • Cleft palateHP:0000175
  • Downturned corners of mouthHP:0002714
  • Enlarged thoraxHP:0100625
  • EpicanthusHP:0000286
  • HypertensionHP:0000822
  • HypotoniaHP:0001252
  • KyphoscoliosisHP:0002751
  • Low posterior hairlineHP:0002162
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Pectus excavatumHP:0000767
  • PtosisHP:0000508
  • Short neckHP:0000470
  • Tooth malpositionHP:0000692
  • Webbed neckHP:0000465
  • Wide intermamillary distanceHP:0006610
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(9)

  • Abnormal cardiovascular system morphologyHP:0030680
  • AlopeciaHP:0001596
  • Atypical behaviorHP:0000708
  • AutoimmunityHP:0002960
  • Generalized dystoniaHP:0007325
  • HoloprosencephalyHP:0001360
  • HypothyroidismHP:0000821
  • LymphedemaHP:0001004
  • MicrophthalmiaHP:0000568