← 返回搜尋

Sandhoff disease, juvenile form

ORPHA:309162 · Clinical subtype · Subtype of disorder

HPO 表現型（共 26 項）

Obligate (100%)(1)

  • Reduced beta-hexosaminidase B activityHP:0033978

Very frequent (99-80%)(1)

  • AtaxiaHP:0001251

Frequent (79-30%)(9)

  • Abnormal pyramidal signHP:0007256
  • Cerebellar atrophyHP:0001272
  • Cognitive impairmentHP:0100543
  • DysarthriaHP:0001260
  • Failure to thriveHP:0001508
  • Gait disturbanceHP:0001288
  • IncoordinationHP:0002311
  • Proximal muscle weaknessHP:0003701
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(12)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • AcroparesthesiaHP:0031006
  • Cerebral atrophyHP:0002059
  • ConstipationHP:0002019
  • DiarrheaHP:0002014
  • Distal muscle weaknessHP:0002460
  • DysphagiaHP:0002015
  • FasciculationsHP:0002380
  • InsomniaHP:0100785
  • Limb joint contractureHP:0003121
  • SeizureHP:0001250
  • Urinary incontinenceHP:0000020

Very rare (<4-1%)(3)

  • Autistic behaviorHP:0000729
  • HypersomniaHP:0100786
  • Pes cavusHP:0001761