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Alexander disease

ORPHA:58 · Disease · Disorder

HPO 表現型（共 61 項）

Very frequent (99-80%)(17)

  • Abnormal pyramidal signHP:0007256
  • Abnormal speech patternHP:0002167
  • Agenesis of corpus callosumHP:0001274
  • ClonusHP:0002169
  • EEG abnormalityHP:0002353
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • HyperreflexiaHP:0001347
  • Intellectual disabilityHP:0001249
  • Large faceHP:0100729
  • MacrocephalyHP:0000256
  • MegalencephalyHP:0001355
  • Nausea and vomitingHP:0002017
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • SpasticityHP:0001257

Frequent (79-30%)(23)

  • Abnormality of eye movementHP:0000496
  • AphasiaHP:0002381
  • AtaxiaHP:0001251
  • Cerebral calcificationHP:0002514
  • ConstipationHP:0002019
  • DepressionHP:0000716
  • DiplopiaHP:0000651
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • Emotional labilityHP:0000712
  • Facial palsyHP:0010628
  • Gait disturbanceHP:0001288
  • HyperhidrosisHP:0000975
  • HypotensionHP:0002615
  • HypothermiaHP:0002045
  • KyphosisHP:0002808
  • NystagmusHP:0000639
  • PtosisHP:0000508
  • Recurrent singultusHP:0100247
  • Sleep apneaHP:0010535
  • TetraplegiaHP:0002445
  • TremorHP:0001337

Occasional (29-5%)(21)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Aqueductal stenosisHP:0002410
  • Bowel incontinenceHP:0002607
  • ChoreaHP:0002072
  • Developmental regressionHP:0002376
  • Diabetes mellitusHP:0000819
  • High palateHP:0000218
  • HydrocephalusHP:0000238
  • HyperlordosisHP:0003307
  • Hyperpigmented neviHP:0007481
  • HypertensionHP:0000822
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Infectious encephalitisHP:0002383
  • Muscle weaknessHP:0001324
  • OsteopeniaHP:0000938
  • Precocious pubertyHP:0000826
  • Respiratory insufficiencyHP:0002093
  • Self-injurious behaviorHP:0100716
  • Short neckHP:0000470
  • Sudden cardiac deathHP:0001645