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Seizures-scoliosis-macrocephaly syndrome

ORPHA:466926 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(4)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Reduced bone mineral densityHP:0004349
  • SeizureHP:0001250

Frequent (79-30%)(19)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the outer earHP:0000356
  • Abnormality of the skinHP:0000951
  • AutismHP:0000717
  • Broad-based gaitHP:0002136
  • Bulbous noseHP:0000414
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • Gastroesophageal refluxHP:0002020
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • NauseaHP:0002018
  • Overlapping toeHP:0001845
  • ScoliosisHP:0002650

Occasional (29-5%)(8)

  • Atrial septal defectHP:0001631
  • ExostosesHP:0100777
  • Flat foreheadHP:0004425
  • High foreheadHP:0000348
  • MicrocephalyHP:0000252
  • PolyhydramniosHP:0001561
  • Prominent foreheadHP:0011220
  • Severe intellectual disabilityHP:0010864