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Fatty acyl-CoA reductase 1 deficiency

ORPHA:438178 · Disease · Disorder

HPO 表現型（共 22 項）

Frequent (79-30%)(9)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Juvenile cataractHP:0001118
  • Progressive microcephalyHP:0000253
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Spastic tetraparesisHP:0001285

Occasional (29-5%)(13)

  • Cerebellar atrophyHP:0001272
  • Dandy-Walker malformationHP:0001305
  • Depressed nasal bridgeHP:0005280
  • Difficulty standingHP:0003698
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • Inability to walkHP:0002540
  • Long philtrumHP:0000343
  • MacrotiaHP:0000400
  • PtosisHP:0000508
  • Short noseHP:0003196
  • Smooth philtrumHP:0000319
  • Thin upper lip vermilionHP:0000219