← 返回搜尋

Mosaic variegated aneuploidy syndrome

ORPHA:1052 · Malformation syndrome · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(13)

  • AscitesHP:0001541
  • CataractHP:0000518
  • Corneal opacityHP:0007957
  • Dandy-Walker malformationHP:0001305
  • EpicanthusHP:0000286
  • GlaucomaHP:0000501
  • Increased nuchal translucencyHP:0010880
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Muscular dystrophyHP:0003560
  • PolyhydramniosHP:0001561
  • Short statureHP:0004322
  • VentriculomegalyHP:0002119

Frequent (79-30%)(6)

  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Triangular faceHP:0000325

Occasional (29-5%)(45)

  • Abnormal aortic morphologyHP:0001679
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal lung lobationHP:0002101
  • Abnormal skin pigmentationHP:0001000
  • Abnormal skull morphologyHP:0000929
  • Abnormality of immune system physiologyHP:0010978
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of the upper limbHP:0002817
  • Acute lymphoblastic leukemiaHP:0006721
  • Ambiguous genitaliaHP:0000062
  • Aortic regurgitationHP:0001659
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • ApneaHP:0002104
  • Atrial septal defectHP:0001631
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Coarctation of aortaHP:0001680
  • Colon cancerHP:0003003
  • Depressed nasal ridgeHP:0000457
  • Downslanted palpebral fissuresHP:0000494
  • Duodenal atresiaHP:0002247
  • Frontal bossingHP:0002007
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • High foreheadHP:0000348
  • HoloprosencephalyHP:0001360
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Intestinal polyposisHP:0200008
  • Intrauterine growth retardationHP:0001511
  • Multicystic kidney dysplasiaHP:0000003
  • Multiple cafe-au-lait spotsHP:0007565
  • MyelodysplasiaHP:0002863
  • NeoplasmHP:0002664
  • NephroblastomaHP:0002667
  • OsteolysisHP:0002797
  • Posteriorly rotated earsHP:0000358
  • RhabdomyosarcomaHP:0002859
  • SeizureHP:0001250
  • Sloping foreheadHP:0000340
  • Stomach cancerHP:0012126
  • Subvalvular aortic stenosisHP:0001682
  • Vaginal neoplasmHP:0100650
  • Wide noseHP:0000445