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MASA syndrome

ORPHA:2466 · Clinical subtype · Subtype of disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(9)

  • AphasiaHP:0002381
  • Delayed speech and language developmentHP:0000750
  • Gait disturbanceHP:0001288
  • Hand clenchingHP:0001188
  • Hemiplegia/hemiparesisHP:0004374
  • HyperreflexiaHP:0001347
  • Intellectual disabilityHP:0001249
  • Short statureHP:0004322
  • Spastic paraplegiaHP:0001258

Frequent (79-30%)(2)

  • Camptodactyly of fingerHP:0100490
  • Clinodactyly of the 5th fingerHP:0004209

Occasional (29-5%)(2)

  • Agenesis of corpus callosumHP:0001274
  • VentriculomegalyHP:0002119