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Obesity due to SIM1 deficiency

ORPHA:369873 · Etiological subtype · Subtype of disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(9)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Cognitive impairmentHP:0100543
  • Decreased circulating vitamin B1 concentrationHP:0100503
  • Global developmental delayHP:0001263
  • HyperinsulinemiaHP:0000842
  • HypotensionHP:0002615
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • Postural hypotension with compensatory tachycardiaHP:0005307

Frequent (79-30%)(2)

  • Attention deficit hyperactivity disorderHP:0007018
  • Memory impairmentHP:0002354

Occasional (29-5%)(2)

  • Autistic behaviorHP:0000729
  • Glucose intoleranceHP:0001952

Excluded (0%)(4)

  • Feeding difficultiesHP:0011968
  • HypotoniaHP:0001252
  • Increased resting energy expenditureHP:0012339
  • Short statureHP:0004322