← 返回搜尋

Thyrocerebrorenal syndrome

ORPHA:3327 · Malformation syndrome · Disorder

HPO 表現型（共 11 項）

Frequent (79-30%)(10)

  • Abnormal appendicular muscle morphologyHP:0009127
  • Euthyroid goiterHP:0009798
  • MyoclonusHP:0001336
  • NephritisHP:0000123
  • Nonprogressive cerebellar ataxiaHP:0002470
  • Renal insufficiencyHP:0000083
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Slurred speechHP:0001350
  • ThrombocytopeniaHP:0001873

Excluded (0%)(1)

  • Intellectual disabilityHP:0001249