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White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

ORPHA:3207 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(12)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Cerebral cortical atrophyHP:0002120
  • Cerebral white matter hypoplasiaHP:0012430
  • Frontal bossingHP:0002007
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(4)

  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Downslanted palpebral fissuresHP:0000494
  • SynophrysHP:0000664
  • VentriculomegalyHP:0002119

Occasional (29-5%)(1)

  • Adducted thumbHP:0001181