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Congenital-onset Steinert myotonic dystrophy

ORPHA:589821 · Clinical subtype · Subtype of disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(4)

  • Abnormally slow thought processHP:0031843
  • Facial hypotoniaHP:0000297
  • MacrocephalyHP:0000256
  • Tented upper lip vermilionHP:0010804

Frequent (79-30%)(12)

  • Bundle branch blockHP:0011710
  • First degree atrioventricular blockHP:0011705
  • MyotoniaHP:0002486
  • Neonatal hypotoniaHP:0001319
  • Neonatal respiratory distressHP:0002643
  • Poor fine motor coordinationHP:0007010
  • Premature birthHP:0001622
  • ScoliosisHP:0002650
  • Short attention spanHP:0000736
  • Speech apraxiaHP:0011098
  • TalipesHP:0001883
  • VentriculomegalyHP:0002119

Occasional (29-5%)(17)

  • Abdominal painHP:0002027
  • Abnormal cardiac septum morphologyHP:0001671
  • Autistic behaviorHP:0000729
  • CataractHP:0000518
  • ConstipationHP:0002019
  • Decreased body weightHP:0004325
  • Decreased fetal movementHP:0001558
  • Delayed speech and language developmentHP:0000750
  • DiarrheaHP:0002014
  • DysphagiaHP:0002015
  • EncopresisHP:0040183
  • EnuresisHP:0000805
  • Gastroesophageal refluxHP:0002020
  • HyperactivityHP:0000752
  • Patent ductus arteriosusHP:0001643
  • PolyhydramniosHP:0001561
  • Sleep disturbanceHP:0002360

Very rare (<4-1%)(1)

  • ObesityHP:0001513