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Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:2508 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(7)

  • Agenesis of corpus callosumHP:0001274
  • MicrocephalyHP:0000252
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • SpasticityHP:0001257

Frequent (79-30%)(8)

  • Abnormal hair patternHP:0010720
  • Abnormal hip bone morphologyHP:0003272
  • Coarse facial featuresHP:0000280
  • Generalized hirsutismHP:0002230
  • NystagmusHP:0000639
  • Protruding earHP:0000411
  • ScoliosisHP:0002650
  • StrabismusHP:0000486

Occasional (29-5%)(6)

  • Cerebral cortical atrophyHP:0002120
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Renal dysplasiaHP:0000110
  • Renal hypoplasia/aplasiaHP:0008678
  • TetraplegiaHP:0002445