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9p13 microdeletion syndrome

ORPHA:324313 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(8)

  • Anteverted naresHP:0000463
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • BruxismHP:0003763
  • MicroretrognathiaHP:0000308
  • Mild global developmental delayHP:0011342
  • MyoclonusHP:0001336
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(6)

  • Abnormal external ear cartilage morphologyHP:3000022
  • BrachycephalyHP:0000248
  • EsotropiaHP:0000565
  • Hand tremorHP:0002378
  • Low-set earsHP:0000369
  • Short statureHP:0004322

Occasional (29-5%)(18)

  • Absent palmar creaseHP:0010489
  • Cafe-au-lait spotHP:0000957
  • Clinodactyly of the 5th fingerHP:0004209
  • Dry skinHP:0000958
  • EpicanthusHP:0000286
  • External genital hypoplasiaHP:0003241
  • High palateHP:0000218
  • Highly arched eyebrowHP:0002553
  • Hyperconvex nailHP:0001795
  • HypermetropiaHP:0000540
  • Hypoplastic toenailsHP:0001800
  • Joint stiffnessHP:0001387
  • Metopic synostosisHP:0011330
  • Precocious pubertyHP:0000826
  • Recurrent otitis mediaHP:0000403
  • ScoliosisHP:0002650
  • Thick eyebrowHP:0000574
  • Umbilical herniaHP:0001537