← 返回搜尋

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

ORPHA:330054 · Disease · Disorder

HPO 表現型（共 13 項）

Frequent (79-30%)(12)

  • Abnormal muscle fiber protein expressionHP:0030089
  • Axial hypotoniaHP:0008936
  • Decreased circulating ferritin concentrationHP:0012343
  • Developmental cataractHP:0000519
  • Diminished deep tendon reflexHP:0001315
  • Global developmental delayHP:0001263
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotoniaHP:0001252
  • Lactic acidosisHP:0003128
  • Progressive sensorineural hearing impairmentHP:0000408
  • PtosisHP:0000508
  • Rotary nystagmusHP:0001583

Excluded (0%)(1)

  • Muscle weaknessHP:0001324