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Choreoacanthocytosis
ORPHA:2388 · Disease · Disorder
HPO 表現型（共 86 項）
Very frequent (99-80%)(2)
- ChoreaHP:0002072
- Involuntary movementsHP:0004305
Frequent (79-30%)(25)
- Abnormal erythrocyte enzyme concentration or activityHP:0030272
- Absent Achilles reflexHP:0003438
- AcanthocytosisHP:0001927
- Atypical behaviorHP:0000708
- Caudate atrophyHP:0002340
- Decreased amplitude of sensory action potentialsHP:0007078
- Diminished deep tendon reflexHP:0001315
- Distal amyotrophyHP:0003693
- Distal muscle weaknessHP:0002460
- Elevated circulating creatine kinase activityHP:0003236
- EMG: neuropathic changesHP:0003445
- FallsHP:0002527
- Impaired vibratory sensationHP:0002495
- Laryngeal dystoniaHP:0012049
- Lateral ventricle dilatationHP:0006956
- Limb dystoniaHP:0002451
- Motor ticsHP:0100034
- Muscle fiber atrophyHP:0100295
- MyopathyHP:0003198
- ParkinsonismHP:0001300
- Peripheral axonal neuropathyHP:0003477
- Phonic ticsHP:0100035
- Poor motor coordinationHP:0002275
- SeizureHP:0001250
- Square-wave jerksHP:0025402
Occasional (29-5%)(52)
- Abnormal hippocampus morphologyHP:0025100
- Abnormal putamen morphologyHP:0031982
- Abnormality of eye movementHP:0000496
- Abnormally slow thought processHP:0031843
- Aggressive behaviorHP:0000718
- AnxietyHP:0000739
- ApathyHP:0000741
- ArthritisHP:0001369
- Bilateral tonic-clonic seizureHP:0002069
- BlepharospasmHP:0000643
- BradykinesiaHP:0002067
- BruxismHP:0003763
- Cerebral cortical atrophyHP:0002120
- Compulsive behaviorsHP:0000722
- Decreased number of peripheral myelinated nerve fibersHP:0003380
- DepressionHP:0000716
- DysarthriaHP:0001260
- DysphagiaHP:0002015
- Emotional labilityHP:0000712
- Equinovarus deformityHP:0008110
- Frontal cortical atrophyHP:0006913
- Functional motor deficitHP:0004302
- Hair-pullingHP:0012167
- Head titubationHP:0002599
- Head-bangingHP:0012168
- HepatomegalyHP:0002240
- HyperactivityHP:0000752
- Hyperkinetic movementsHP:0002487
- HypertoniaHP:0001276
- Hypoplastic hippocampusHP:0025517
- IrritabilityHP:0000737
- Lingual dystoniaHP:0031008
- Loss of ambulationHP:0002505
- Mental deteriorationHP:0001268
- MicrographiaHP:0031908
- Oromandibular dystoniaHP:0012048
- ParanoiaHP:0011999
- Peroneal muscle atrophyHP:0009049
- Protruding tongueHP:0010808
- Resting tremorHP:0002322
- Self-injurious behaviorHP:0100716
- Self-mutilation of tongue and lips due to involuntary movementsHP:0008767
- Self-neglectHP:0025479
- Short attention spanHP:0000736
- Slow saccadic eye movementsHP:0000514
- Slurred speechHP:0001350
- Small basal gangliaHP:0012697
- Socially inappropriate behaviorHP:0030220
- SplenomegalyHP:0001744
- Temporomandibular joint crepitusHP:0012479
- Upgaze palsyHP:0025331
- Weight lossHP:0001824
Very rare (<4-1%)(7)
- Abnormal autonomic nervous system physiologyHP:0012332
- Dilated cardiomyopathyHP:0001644
- Elevated circulating alanine aminotransferase concentrationHP:0031964
- Elevated circulating aspartate aminotransferase concentrationHP:0031956
- Increased circulating lactate dehydrogenase concentrationHP:0025435
- Iron accumulation in brainHP:0012675
- Sleep disturbanceHP:0002360