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1p31p32 microdeletion syndrome

ORPHA:401986 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(3)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Global developmental delayHP:0001263
  • VentriculomegalyHP:0002119

Frequent (79-30%)(11)

  • Abnormality of the urinary systemHP:0000079
  • Attention deficit hyperactivity disorderHP:0007018
  • Chiari type I malformationHP:0007099
  • Compulsive behaviorsHP:0000722
  • Frontal bossingHP:0002007
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Intraventricular hemorrhageHP:0030746
  • MacrocephalyHP:0000256
  • SeizureHP:0001250
  • Tethered cordHP:0002144

Occasional (29-5%)(3)

  • CraniosynostosisHP:0001363
  • Cutis marmorataHP:0000965
  • Ocular hypertensionHP:0007906

Very rare (<4-1%)(1)

  • Moyamoya phenomenonHP:0011834