← 返回搜尋

Alacrimia-choreoathetosis-liver dysfunction syndrome

ORPHA:404454 · Disease · Disorder

HPO 表現型（共 91 項）

Very frequent (99-80%)(3)

  • Cerebral atrophyHP:0002059
  • Hyperkinetic movementsHP:0002487
  • Sensorimotor neuropathyHP:0007141

Frequent (79-30%)(27)

  • Abnormal myelinationHP:0012447
  • Absent speechHP:0001344
  • AlacrimaHP:0000522
  • Cerebellar atrophyHP:0001272
  • ChoreoathetosisHP:0001266
  • Chronic constipationHP:0012450
  • Decreased circulating LDL-C concentrationHP:0003563
  • Decreased CSF 5-hydroxyindolacetic acid concentrationHP:0025455
  • Decreased CSF albumin concentrationHP:0025458
  • Decreased CSF biopterin levelHP:0040209
  • Decreased CSF homovanillic acid concentrationHP:0003785
  • Decreased CSF protein concentrationHP:0025457
  • Decreased lacrimationHP:0000633
  • Developmental regressionHP:0002376
  • EEG abnormalityHP:0002353
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thriveHP:0001508
  • Generalized myoclonic seizureHP:0002123
  • Global developmental delayHP:0001263
  • HypotriglyceridemiaHP:0012153
  • Inability to walkHP:0002540
  • Increased susceptibility to fracturesHP:0002659
  • Intellectual disabilityHP:0001249
  • Obstructive sleep apneaHP:0002870
  • Poor speechHP:0002465
  • Profound intellectual disabilityHP:0002187
  • Small for gestational ageHP:0001518

Occasional (29-5%)(53)

  • Achilles tendon contractureHP:0001771
  • AcromesomeliaHP:0003086
  • Action tremorHP:0002345
  • AstasiaHP:0020037
  • AthetosisHP:0002305
  • Atonic seizureHP:0010819
  • Axonal lossHP:0003447
  • ChoreaHP:0002072
  • Congenital hip dislocationHP:0001374
  • Corneal scarringHP:0000559
  • Coxa valgaHP:0002673
  • Decreased resting energy expenditureHP:0012340
  • Delayed ability to sitHP:0025336
  • Delayed myelinationHP:0012448
  • Delayed skeletal maturationHP:0002750
  • DystoniaHP:0001332
  • Facial hypotoniaHP:0000297
  • Fatigable weakness of speech musclesHP:0030194
  • Focal emotional seizure with laughingHP:0010821
  • Focal tonic seizureHP:0011167
  • Generalized aminoaciduriaHP:0002909
  • Generalized non-motor (absence) seizureHP:0002121
  • GliosisHP:0002171
  • HepatomegalyHP:0002240
  • Hip dysplasiaHP:0001385
  • HypofibrinogenemiaHP:0011900
  • HyporeflexiaHP:0001265
  • Impaired oral bolus formationHP:0031146
  • Impaired oropharyngeal swallow responseHP:0031162
  • Infantile spasmsHP:0012469
  • Joint hypermobilityHP:0001382
  • Limb joint contractureHP:0003121
  • Lingual dystoniaHP:0031008
  • Micronodular cirrhosisHP:0001413
  • Microvesicular hepatic steatosisHP:0001414
  • MyoclonusHP:0001336
  • Nodular regenerative hyperplasia of liverHP:0011954
  • Oculomotor apraxiaHP:0000657
  • Poor head controlHP:0002421
  • Prolonged prothrombin timeHP:0008151
  • Recurrent respiratory infectionsHP:0002205
  • Reduced bone mineral densityHP:0004349
  • Reduced factor XI activityHP:0001929
  • Reduced protein C activityHP:0005543
  • Sclerosis of finger phalanxHP:0100899
  • ScoliosisHP:0002650
  • Secondary microcephalyHP:0005484
  • Shoulder dislocationHP:0003834
  • SplenomegalyHP:0001744
  • Staring gazeHP:0025401
  • Suck reflexHP:0030906
  • Tarsal sclerosisHP:0031051
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(8)

  • Bilateral ptosisHP:0001488
  • Cone/cone-rod dystrophyHP:0000548
  • Corneal neovascularizationHP:0011496
  • ExotropiaHP:0000577
  • LagophthalmosHP:0030001
  • Optic atrophyHP:0000648
  • Optic disc pallorHP:0000543
  • Pigmentary retinopathyHP:0000580