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WARS2-related combined oxidative phosphorylation defect

ORPHA:572798 · Disease · Disorder

HPO 表現型（共 57 項）

Very frequent (99-80%)(4)

  • Abnormality of movementHP:0100022
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(21)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormal periventricular white matter morphologyHP:0002518
  • Abnormal speech patternHP:0002167
  • Aggressive behaviorHP:0000718
  • Axial hypotoniaHP:0008936
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Cerebral white matter hypoplasiaHP:0012430
  • Delayed myelinationHP:0012448
  • Gait disturbanceHP:0001288
  • Generalized amyotrophyHP:0003700
  • HyperreflexiaHP:0001347
  • Increased circulating lactate concentrationHP:0002151
  • Intrauterine growth retardationHP:0001511
  • Lactic acidosisHP:0003128
  • Limb dystoniaHP:0002451
  • Limb hypertoniaHP:0002509
  • Moderate intellectual disabilityHP:0002342
  • Muscle weaknessHP:0001324
  • SeizureHP:0001250
  • VentriculomegalyHP:0002119

Occasional (29-5%)(32)

  • Abnormal facial shapeHP:0001999
  • Absent speechHP:0001344
  • AmblyopiaHP:0000646
  • AtaxiaHP:0001251
  • AthetosisHP:0002305
  • CardiomyopathyHP:0001638
  • Cerebellar vermis hypoplasiaHP:0001320
  • Difficulty standingHP:0003698
  • Dilated fourth ventricleHP:0002198
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • ExotropiaHP:0000577
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Hypoplasia of the brainstemHP:0002365
  • Impaired smooth pursuitHP:0007772
  • Lateral ventricle dilatationHP:0006956
  • LeukoencephalopathyHP:0002352
  • Low-set earsHP:0000369
  • Multifocal seizuresHP:0031165
  • Neonatal hypoglycemiaHP:0001998
  • NystagmusHP:0000639
  • Poor head controlHP:0002421
  • Positional foot deformityHP:0005656
  • Profound intellectual disabilityHP:0002187
  • Rod-cone dystrophyHP:0000510
  • Spastic tetraplegiaHP:0002510
  • Thin upper lip vermilionHP:0000219
  • ThrombocytopeniaHP:0001873
  • TremorHP:0001337
  • Wide nasal bridgeHP:0000431
  • Widened subarachnoid spaceHP:0012704