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SLC39A8-CDG

ORPHA:468699 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(6)

  • Abnormal circulating zinc concentrationHP:0008277
  • HypomanganesemiaHP:0032098
  • Profound global developmental delayHP:0012736
  • Profound intellectual disabilityHP:0002187
  • Severe muscular hypotoniaHP:0006829
  • Type II transferrin isoform profileHP:0012301

Frequent (79-30%)(9)

  • Cerebellar atrophyHP:0001272
  • Cerebral cortical atrophyHP:0002120
  • Failure to thrive in infancyHP:0001531
  • Inability to walkHP:0002540
  • Poor head controlHP:0002421
  • SeizureHP:0001250
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Visual fixation instabilityHP:0025405

Occasional (29-5%)(26)

  • Abnormality of the liverHP:0001392
  • AstigmatismHP:0000483
  • CraniosynostosisHP:0001363
  • Cutaneous syndactyly of toesHP:0010621
  • Decreased activity of mitochondrial complex IIHP:0008314
  • Decreased activity of mitochondrial complex IVHP:0008347
  • Decreased activity of the pyruvate dehydrogenase complexHP:0002928
  • Decreased mitochondrial complex III activity in liver tissueHP:0006558
  • Disproportionate short-limb short statureHP:0008873
  • DystoniaHP:0001332
  • Elbow flexion contractureHP:0002987
  • Flat faceHP:0012368
  • Hearing impairmentHP:0000365
  • HypermetropiaHP:0000540
  • HyperreflexiaHP:0001347
  • HypsarrhythmiaHP:0002521
  • Increased CSF lactateHP:0002490
  • Knee flexion contractureHP:0006380
  • Limb undergrowthHP:0009826
  • Low-set earsHP:0000369
  • NystagmusHP:0000639
  • OsteopeniaHP:0000938
  • Poor speechHP:0002465
  • Recurrent infectionsHP:0002719
  • Sudden episodic apneaHP:0002882
  • VentriculomegalyHP:0002119