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Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

ORPHA:280679 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(1)

  • Moyamoya phenomenonHP:0011834

Frequent (79-30%)(17)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the nervous systemHP:0000707
  • AzoospermiaHP:0000027
  • CataractHP:0000518
  • Cerebral hemorrhageHP:0001342
  • Congenital ptosisHP:0007970
  • Delayed pubertyHP:0000823
  • Dilated cardiomyopathyHP:0001644
  • Functional motor deficitHP:0004302
  • Hypergonadotropic hypogonadismHP:0000815
  • HypertelorismHP:0000316
  • HypertensionHP:0000822
  • Ischemic strokeHP:0002140
  • Long philtrumHP:0000343
  • Premature graying of hairHP:0002216
  • RetrognathiaHP:0000278
  • Short statureHP:0004322

Occasional (29-5%)(9)

  • Coronary artery atherosclerosisHP:0001677
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased testicular sizeHP:0008734
  • Deeply set eyeHP:0000490
  • Flared nostrilsHP:0000454
  • Global developmental delayHP:0001263
  • Low-set earsHP:0000369
  • Muscle weaknessHP:0001324
  • Wide noseHP:0000445