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Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

ORPHA:280384 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(4)

  • Absent speechHP:0001344
  • Developmental regressionHP:0002376
  • Limb joint contractureHP:0003121
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(6)

  • Ankle flexion contractureHP:0006466
  • Elbow flexion contractureHP:0002987
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Knee flexion contractureHP:0006380
  • MacroglossiaHP:0000158
  • Wide mouthHP:0000154

Occasional (29-5%)(10)

  • Abnormal lumbar spine morphologyHP:0100712
  • Abnormal pinna morphologyHP:0000377
  • Ankle clonusHP:0011448
  • DysphagiaHP:0002015
  • Hand tremorHP:0002378
  • High palateHP:0000218
  • Short philtrumHP:0000322
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574
  • Upper limb hyperreflexiaHP:0007350