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Atypical Rett syndrome

ORPHA:3095 · Disease · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(16)

  • Abnormal pattern of respirationHP:0002793
  • Abnormality of movementHP:0100022
  • AgitationHP:0000713
  • Autistic behaviorHP:0000729
  • Developmental regressionHP:0002376
  • EEG abnormalityHP:0002353
  • Feeding difficultiesHP:0011968
  • Functional motor deficitHP:0004302
  • Gait disturbanceHP:0001288
  • Intellectual disabilityHP:0001249
  • Involuntary movementsHP:0004305
  • Loss of speechHP:0002371
  • Reduced eye contactHP:0000817
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • Stereotypical hand wringingHP:0012171

Frequent (79-30%)(22)

  • Abnormal muscle toneHP:0003808
  • ApraxiaHP:0002186
  • DystoniaHP:0001332
  • Episodic tachypneaHP:0002876
  • Functional abnormality of the gastrointestinal tractHP:0012719
  • Gait ataxiaHP:0002066
  • Hand apraxiaHP:0032588
  • HypotoniaHP:0001252
  • Inability to walkHP:0002540
  • Limb myoclonusHP:0045084
  • Loss of ambulationHP:0002505
  • MutismHP:0002300
  • Neonatal seizureHP:0032807
  • Reduced social responsivenessHP:0012760
  • Restrictive behaviorHP:0000723
  • Secondary microcephalyHP:0005484
  • Severe global developmental delayHP:0011344
  • Short footHP:0001773
  • Small handHP:0200055
  • SpasticityHP:0001257
  • Sudden episodic apneaHP:0002882
  • Tongue thrustingHP:0100703

Occasional (29-5%)(15)

  • Delayed gross motor developmentHP:0002194
  • Developmental stagnationHP:0007281
  • Generalized myoclonic seizureHP:0002123
  • Growth delayHP:0001510
  • Impaired pain sensationHP:0007328
  • Inappropriate cryingHP:0030215
  • Inappropriate laughterHP:0000748
  • Infantile spasmsHP:0012469
  • KyphosisHP:0002808
  • Mild intellectual disabilityHP:0001256
  • Neonatal hypotoniaHP:0001319
  • Panic attackHP:0025269
  • Pill-rolling tremorHP:0025387
  • ScoliosisHP:0002650
  • TremorHP:0001337

Excluded (0%)(1)

  • Total ophthalmoplegiaHP:0007824