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Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

ORPHA:391307 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • MicrocephalyHP:0000252
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(8)

  • Aggressive behaviorHP:0000718
  • Atypical behaviorHP:0000708
  • Delayed speech and language developmentHP:0000750
  • KyphoscoliosisHP:0002751
  • Motor stereotypyHP:0000733
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(17)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of the dentitionHP:0000164
  • Decreased total lymphocyte countHP:0001888
  • Deeply set eyeHP:0000490
  • HyperactivityHP:0000752
  • Hypoplasia of the corpus callosumHP:0002079
  • IrritabilityHP:0000737
  • MacrotiaHP:0000400
  • Moderate intellectual disabilityHP:0002342
  • MyotoniaHP:0002486
  • Premature ovarian insufficiencyHP:0008209
  • Prominent noseHP:0000448
  • Sloping foreheadHP:0000340
  • StrabismusHP:0000486
  • SynophrysHP:0000664
  • Thin vermilion borderHP:0000233