← 返回搜尋

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

ORPHA:329249 · Etiological subtype · Subtype of disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(5)

  • HyperinsulinemiaHP:0000842
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • Reduced social responsivenessHP:0012760
  • Short statureHP:0004322

Frequent (79-30%)(3)

  • Aggressive behaviorHP:0000718
  • Delayed speech and language developmentHP:0000750
  • No social interactionHP:0008763

Excluded (0%)(3)

  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • HyperglycemiaHP:0003074
  • HyperlipidemiaHP:0003077