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Ataxia-photosensitivity-short stature syndrome

ORPHA:1184 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(11)

  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • Bilateral single transverse palmar creasesHP:0007598
  • Clinodactyly of the 5th fingerHP:0004209
  • Cognitive impairmentHP:0100543
  • Cutaneous photosensitivityHP:0000992
  • Diminished deep tendon reflexHP:0001315
  • Dry skinHP:0000958
  • High palateHP:0000218
  • Short statureHP:0004322
  • UrticariaHP:0001025

Frequent (79-30%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the dentitionHP:0000164
  • Cubitus valgusHP:0002967
  • Gait disturbanceHP:0001288
  • StrabismusHP:0000486