← 返回搜尋

Glutaryl-CoA dehydrogenase deficiency

ORPHA:25 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(3)

  • Abnormal basal ganglia morphologyHP:0002134
  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Glutaric aciduriaHP:0003150

Frequent (79-30%)(17)

  • Abnormal caudate nucleus morphologyHP:0002339
  • Abnormal putamen morphologyHP:0031982
  • AthetosisHP:0002305
  • Communicating hydrocephalusHP:0001334
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Feeding difficultiesHP:0011968
  • HeadacheHP:0002315
  • Increased head circumferenceHP:0040194
  • Open operculumHP:0100954
  • Pallidal degenerationHP:0007132
  • Poor motor coordinationHP:0002275
  • Progressive macrocephalyHP:0004481
  • Subependymal nodulesHP:0009716
  • T2 hypointense basal gangliaHP:0012753
  • Widened subarachnoid spaceHP:0012704

Occasional (29-5%)(21)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of the respiratory systemHP:0002086
  • AtaxiaHP:0001251
  • ChoreaHP:0002072
  • Cognitive impairmentHP:0100543
  • DementiaHP:0000726
  • Developmental regressionHP:0002376
  • Exercise intoleranceHP:0003546
  • Fasting hypoglycemiaHP:0003162
  • Infantile spasmsHP:0012469
  • Joint dislocationHP:0001373
  • Limb dystoniaHP:0002451
  • Loss of consciousnessHP:0007185
  • Retinal hemorrhageHP:0000573
  • RigidityHP:0002063
  • SeizureHP:0001250
  • Severe muscular hypotoniaHP:0006829
  • Subdural hemorrhageHP:0100309
  • TremorHP:0001337
  • VentriculomegalyHP:0002119
  • VertigoHP:0002321

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

  • Chronic kidney diseaseHP:0012622
  • Peripheral neuropathyHP:0009830