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SLC35A2-CDG

ORPHA:356961 · Disease · Disorder

HPO 表現型（共 74 項）

Very frequent (99-80%)(7)

  • Abnormality of the nervous systemHP:0000707
  • Abnormality of the skeletal systemHP:0000924
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • HypsarrhythmiaHP:0002521
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Frequent (79-30%)(26)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal facial shapeHP:0001999
  • Abnormal glycosylationHP:0012345
  • Abnormality of the eyeHP:0000478
  • Abnormality of the handHP:0001155
  • Abnormality of the immune systemHP:0002715
  • Abnormality of the respiratory systemHP:0002086
  • Abnormality of the skinHP:0000951
  • Aplasia/hypoplasia involving bones of the extremitiesHP:0045060
  • Axial hypotoniaHP:0008936
  • Cerebellar atrophyHP:0001272
  • Cerebral visual impairmentHP:0100704
  • Decreased galactosylation of N-linked protein glycosylationHP:0012348
  • Decreased sialylation of O-linked protein glycosylationHP:0012363
  • Delayed myelinationHP:0012448
  • Elevated brain N-acetyl aspartate level by MRSHP:0025053
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thrive in infancyHP:0001531
  • Feeding difficultiesHP:0011968
  • Inability to walkHP:0002540
  • Infantile spasmsHP:0012469
  • MicrocephalyHP:0000252
  • Nasogastric tube feedingHP:0040288
  • ScoliosisHP:0002650
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322

Occasional (29-5%)(25)

  • Abnormal heart morphologyHP:0001627
  • Abnormal long bone morphologyHP:0011314
  • AnisometropiaHP:0012803
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Cerebral atrophyHP:0002059
  • Cerebral white matter atrophyHP:0012762
  • Coxa valgaHP:0002673
  • CraniosynostosisHP:0001363
  • EEG with focal epileptiform dischargesHP:0011185
  • ExotropiaHP:0000577
  • Hypopigmentation of the skinHP:0001010
  • Hypoplasia of the corpus callosumHP:0002079
  • Intrauterine growth retardationHP:0001511
  • Inverted nipplesHP:0003186
  • Limb joint contractureHP:0003121
  • Metatarsus adductusHP:0001840
  • Paroxysmal involuntary eye movementsHP:0007704
  • Precocious pubertyHP:0000826
  • Prenatal maternal abnormalityHP:0002686
  • Sensorineural hearing impairmentHP:0000407
  • Short corpus callosumHP:0200012
  • Spastic tetraparesisHP:0001285
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Thickened nuchal skin foldHP:0000474

Very rare (<4-1%)(16)

  • Abnormal midbrain morphologyHP:0002418
  • Abnormal renal morphologyHP:0012210
  • Camptodactyly of fingerHP:0100490
  • Cortical dysplasiaHP:0002539
  • Dandy-Walker malformationHP:0001305
  • Elevated circulating thyroglobulin concentrationHP:0025484
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • Gastroesophageal refluxHP:0002020
  • Hip subluxationHP:0030043
  • Hypoplastic hippocampusHP:0025517
  • Joint hypermobilityHP:0001382
  • Lateral ventricle dilatationHP:0006956
  • OsteopeniaHP:0000938
  • Short tibiaHP:0005736
  • Tetralogy of FallotHP:0001636
  • Transient nephrotic syndromeHP:0008695