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Macrocephaly-developmental delay syndrome

ORPHA:397612 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Frequent (79-30%)(8)

  • Abnormal speech discriminationHP:0001963
  • AnxietyHP:0000739
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Frontal bossingHP:0002007
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • Motor stereotypyHP:0000733

Occasional (29-5%)(18)

  • Autistic behaviorHP:0000729
  • Clinodactyly of the 5th fingerHP:0004209
  • CraniosynostosisHP:0001363
  • Downslanted palpebral fissuresHP:0000494
  • EEG with generalized slow activityHP:0010845
  • HepatosplenomegalyHP:0001433
  • High palateHP:0000218
  • HypotoniaHP:0001252
  • Mandibular prognathiaHP:0000303
  • MicroretrognathiaHP:0000308
  • Narrow palpebral fissureHP:0045025
  • Palpebral edemaHP:0100540
  • Prominent foreheadHP:0011220
  • Recurrent pneumoniaHP:0006532
  • ScaphocephalyHP:0030799
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Wide nasal bridgeHP:0000431