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Isolated megalencephaly

ORPHA:2477 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(12)

  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Deeply set eyeHP:0000490
  • Delayed skeletal maturationHP:0002750
  • DolichocephalyHP:0000268
  • Frontal bossingHP:0002007
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • Pointed chinHP:0000307
  • Prominent occiputHP:0000269
  • Short neckHP:0000470
  • Truncal obesityHP:0001956
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(4)

  • Atrial septal defectHP:0001631
  • Genu valgumHP:0002857
  • Long penisHP:0000040
  • MacroorchidismHP:0000053