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Amish lethal microcephaly

ORPHA:99742 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(11)

  • Cerebellar vermis hypoplasiaHP:0001320
  • Death in infancyHP:0001522
  • Feeding difficultiesHP:0011968
  • IrritabilityHP:0000737
  • Metabolic acidosisHP:0001942
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Optic atrophyHP:0000648
  • Organic aciduriaHP:0001992
  • Severe global developmental delayHP:0011344
  • Sloping foreheadHP:0000340

Frequent (79-30%)(8)

  • Agenesis of corpus callosumHP:0001274
  • HypotoniaHP:0001252
  • Limb hypertoniaHP:0002509
  • LissencephalyHP:0001339
  • OsteoporosisHP:0000939
  • Spina bifidaHP:0002414
  • Temperature instabilityHP:0005968
  • VentriculomegalyHP:0002119

Occasional (29-5%)(6)

  • Bilateral tonic-clonic seizureHP:0002069
  • Cleft soft palateHP:0000185
  • Decreased fetal movementHP:0001558
  • Decreased skull ossificationHP:0004331
  • HepatomegalyHP:0002240
  • Limitation of joint mobilityHP:0001376