← 返回搜尋

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(19)

  • Abnormality of peripheral nerve conductionHP:0003134
  • CataractHP:0000518
  • Finger joint contractureHP:0034681
  • Flexion contracture of toeHP:0005830
  • Global developmental delayHP:0001263
  • Hypogonadotropic hypogonadismHP:0000044
  • Intrauterine growth retardationHP:0001511
  • KyphosisHP:0002808
  • Malar prominenceHP:0010620
  • MicrocorneaHP:0000482
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Mild intellectual disabilityHP:0001256
  • NystagmusHP:0000639
  • ParesthesiaHP:0003401
  • Peripheral hypomyelinationHP:0007182
  • Sensory neuropathyHP:0000763
  • Short statureHP:0004322
  • StrabismusHP:0000486

Frequent (79-30%)(4)

  • Cerebral cortical atrophyHP:0002120
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • OsteoporosisHP:0000939
  • ScoliosisHP:0002650

Occasional (29-5%)(9)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of the cervical spineHP:0003319
  • Acute rhabdomyolysisHP:0008942
  • AtaxiaHP:0001251
  • ChoreaHP:0002072
  • DysmetriaHP:0001310
  • HypoglycemiaHP:0001943
  • Intention tremorHP:0002080
  • VentriculomegalyHP:0002119