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Riboflavin transporter deficiency

ORPHA:97229 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(4)

  • Abnormal cranial nerve morphologyHP:0001291
  • Bulbar palsyHP:0001283
  • Cranial nerve paralysisHP:0006824
  • Progressive hearing impairmentHP:0001730

Frequent (79-30%)(12)

  • Abnormality of eye movementHP:0000496
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Facial palsyHP:0010628
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Limb muscle weaknessHP:0003690
  • Muscle weaknessHP:0001324
  • MyoclonusHP:0001336
  • PtosisHP:0000508
  • Respiratory insufficiencyHP:0002093
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(19)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal macular pigmentationHP:0008002
  • Aggressive behaviorHP:0000718
  • AtaxiaHP:0001251
  • CachexiaHP:0004326
  • Cerebral cortical atrophyHP:0002120
  • Color vision defectHP:0000551
  • Diabetes insipidusHP:0000873
  • GynecomastiaHP:0000771
  • HallucinationsHP:0000738
  • HypertensionHP:0000822
  • HypogonadismHP:0000135
  • Intellectual disabilityHP:0001249
  • Iris hypopigmentationHP:0007730
  • Optic disc pallorHP:0000543
  • SeizureHP:0001250
  • Sleep apneaHP:0010535
  • TremorHP:0001337
  • Visual impairmentHP:0000505