← 返回搜尋

20q13.33 microdeletion syndrome

ORPHA:261311 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(8)

  • Abnormal limb bone morphologyHP:0002813
  • Delayed speech and language developmentHP:0000750
  • Dilation of Virchow-Robin spacesHP:0012520
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Neurodevelopmental delayHP:0012758
  • Small for gestational ageHP:0001518

Frequent (79-30%)(6)

  • Downslanted palpebral fissuresHP:0000494
  • Failure to thrive in infancyHP:0001531
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250
  • Short lower limbsHP:0006385
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(29)

  • Abnormal cardiac ventricle morphologyHP:0001713
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Atrial septal defectHP:0001631
  • Autistic behaviorHP:0000729
  • Bulbous noseHP:0000414
  • Decreased scrotal rugationHP:0012858
  • Delayed CNS myelinationHP:0002188
  • EpicanthusHP:0000286
  • Facial hypotoniaHP:0000297
  • Hallux valgusHP:0001822
  • HematocheziaHP:0002573
  • Highly arched eyebrowHP:0002553
  • Hip dislocationHP:0002827
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • Hypoplastic aortic archHP:0012304
  • HypospadiasHP:0000047
  • Narrow foreheadHP:0000341
  • Narrow noseHP:0000460
  • OligohydramniosHP:0001562
  • Pes planusHP:0001763
  • Prominent crus of helixHP:0009899
  • ProptosisHP:0000520
  • Sacral dimpleHP:0000960
  • Smooth philtrumHP:0000319
  • Talipes equinovarusHP:0001762
  • Tapered fingerHP:0001182
  • Thin vermilion borderHP:0000233
  • Triangular faceHP:0000325