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CEDNIK syndrome

ORPHA:66631 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(11)

  • AtaxiaHP:0001251
  • Diffuse palmoplantar hyperkeratosisHP:0007447
  • Downslanted palpebral fissuresHP:0000494
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • IchthyosisHP:0008064
  • Intellectual disabilityHP:0001249
  • Long faceHP:0000276
  • MicrocephalyHP:0000252
  • Poor head controlHP:0002421
  • Prominent nasal bridgeHP:0000426

Frequent (79-30%)(8)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormality of eye movementHP:0000496
  • Abnormality of peripheral nerve conductionHP:0003134
  • AreflexiaHP:0001284
  • Optic atrophyHP:0000648
  • PachygyriaHP:0001302
  • Peripheral neuropathyHP:0009830
  • PolymicrogyriaHP:0002126

Occasional (29-5%)(14)

  • Abnormality of the dentitionHP:0000164
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Congestive heart failureHP:0001635
  • Depressed nasal ridgeHP:0000457
  • DolichocephalyHP:0000268
  • HypogonadismHP:0000135
  • MacrotiaHP:0000400
  • Nephrotic syndromeHP:0000100
  • ProteinuriaHP:0000093
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • StrokeHP:0001297