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RFT1-CDG

ORPHA:244310 · Disease · Disorder

HPO 表現型（共 22 項）

Obligate (100%)(3)

  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • SeizureHP:0001250

Very frequent (99-80%)(2)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Hearing impairmentHP:0000365

Frequent (79-30%)(10)

  • Abnormal bleedingHP:0001892
  • Abnormal thrombosisHP:0001977
  • Abnormality of coagulationHP:0001928
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • HepatomegalyHP:0002240
  • Inverted nipplesHP:0003186
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • Visual impairmentHP:0000505

Occasional (29-5%)(7)

  • Abnormal posterior cranial fossa morphologyHP:0000932
  • AtaxiaHP:0001251
  • Bilateral basal ganglia lesionsHP:0007146
  • Cerebral atrophyHP:0002059
  • Cerebral cortical atrophyHP:0002120
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • Stroke-like episodeHP:0002401