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Alternating hemiplegia of childhood

ORPHA:2131 · Disease · Disorder

HPO 表現型（共 65 項）

Very frequent (99-80%)(3)

  • Abnormality of the gastrointestinal tractHP:0011024
  • Episodic hemiplegiaHP:0012194
  • Gastrointestinal dysmotilityHP:0002579

Frequent (79-30%)(24)

  • Abdominal distentionHP:0003270
  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal involuntary eye movementsHP:0012547
  • AnorexiaHP:0002039
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • ConstipationHP:0002019
  • Delayed speech and language developmentHP:0000750
  • DiarrheaHP:0002014
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • EsotropiaHP:0000565
  • ExotropiaHP:0000577
  • Failure to thriveHP:0001508
  • FlushingHP:0031284
  • Intellectual disabilityHP:0001249
  • MydriasisHP:0011499
  • Neurodevelopmental delayHP:0012758
  • NystagmusHP:0000639
  • Oral-pharyngeal dysphagiaHP:0200136
  • PallorHP:0000980
  • SeizureHP:0001250
  • TetraparesisHP:0002273
  • VomitingHP:0002013

Occasional (29-5%)(34)

  • Abnormal pyramidal signHP:0007256
  • Abnormal T-waveHP:0005135
  • Aggressive behaviorHP:0000718
  • ApneaHP:0002104
  • AreflexiaHP:0001284
  • AspirationHP:0002835
  • Bilateral tonic-clonic seizureHP:0002069
  • Bulbar signsHP:0002483
  • Cardiac conduction abnormalityHP:0031546
  • ChoreaHP:0002072
  • ChoreoathetosisHP:0001266
  • DehydrationHP:0001944
  • Downturned corners of mouthHP:0002714
  • DysarthriaHP:0001260
  • Emotional labilityHP:0000712
  • Exaggerated cupid's bowHP:0002263
  • Facial hypotoniaHP:0000297
  • Focal motor seizureHP:0011153
  • HeadacheHP:0002315
  • High foreheadHP:0000348
  • HyperhidrosisHP:0000975
  • HyperreflexiaHP:0001347
  • HypotoniaHP:0001252
  • ImpulsivityHP:0100710
  • Ocular flutterHP:0031931
  • Oculomotor apraxiaHP:0000657
  • Paroxysmal dyskinesiaHP:0007166
  • Progressive neurologic deteriorationHP:0002344
  • Respiratory distressHP:0002098
  • RigidityHP:0002063
  • SkewfootHP:0032649
  • Status epilepticusHP:0002133
  • Thin eyebrowHP:0045074
  • TremorHP:0001337

Very rare (<4-1%)(2)

  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638

Excluded (0%)(2)

  • Brain imaging abnormalityHP:0410263
  • EEG abnormalityHP:0002353