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Goldberg-Shprintzen megacolon syndrome

ORPHA:66629 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(6)

  • Aganglionic megacolonHP:0002251
  • Cleft palateHP:0000175
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(3)

  • HypotoniaHP:0001252
  • Iris colobomaHP:0000612
  • PtosisHP:0000508

Occasional (29-5%)(14)

  • Bifid scrotumHP:0000048
  • Finger syndactylyHP:0006101
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • HypospadiasHP:0000047
  • MacrotiaHP:0000400
  • PachygyriaHP:0001302
  • Pointed chinHP:0000307
  • SeizureHP:0001250
  • Sloping foreheadHP:0000340
  • Sparse eyebrowHP:0045075
  • Sparse scalp hairHP:0002209
  • VentriculomegalyHP:0002119
  • Wide nasal bridgeHP:0000431