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GAPO syndrome

ORPHA:2067 · Malformation syndrome · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(24)

  • AlopeciaHP:0001596
  • Anteverted naresHP:0000463
  • Broad foreheadHP:0000337
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Early baldingHP:0002234
  • Everted lower lip vermilionHP:0000232
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • Hyperextensible skinHP:0000974
  • HypertelorismHP:0000316
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Palpebral edemaHP:0100540
  • Prematurely aged appearanceHP:0007495
  • Short statureHP:0004322
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Thick nasal alaeHP:0009928
  • Underdeveloped supraorbital ridgesHP:0009891

Frequent (79-30%)(13)

  • Abnormal cerebral vascular morphologyHP:0100659
  • Abnormal clavicle morphologyHP:0000889
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal palate morphologyHP:0000174
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal thorax morphologyHP:0000765
  • Abnormal vertebral body morphologyHP:0003312
  • GlaucomaHP:0000501
  • KeratoconusHP:0000563
  • Mandibular prognathiaHP:0000303
  • Skin tagsHP:0010609
  • Umbilical herniaHP:0001537
  • Visual impairmentHP:0000505

Occasional (29-5%)(17)

  • AmenorrheaHP:0000141
  • Asymmetry of the thoraxHP:0001555
  • AtherosclerosisHP:0002621
  • Choanal atresiaHP:0000453
  • Decreased skull ossificationHP:0004331
  • DysmenorrheaHP:0100607
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HemangiomaHP:0001028
  • HypogonadismHP:0000135
  • Hypopigmented skin patchesHP:0001053
  • Increased intracranial pressureHP:0002516
  • Kidney stoneHP:0000787
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • OligozoospermiaHP:0000798
  • Optic atrophyHP:0000648