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Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(12)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of visual evoked potentialsHP:0000649
  • CachexiaHP:0004326
  • Cerebral visual impairmentHP:0100704
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • MicroretrognathiaHP:0000308
  • Postaxial hand polydactylyHP:0001162
  • Prominent foreheadHP:0011220
  • Recurrent respiratory infectionsHP:0002205
  • Short noseHP:0003196
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276