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HSD10 disease

ORPHA:391417 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(1)

  • Abnormal urinary acylglycine profileHP:0012073

Frequent (79-30%)(8)

  • Delayed speech and language developmentHP:0000750
  • Developmental regressionHP:0002376
  • Elevated urinary 3-hydroxybutyric acidHP:0040155
  • Global developmental delayHP:0001263
  • Moderate intellectual disabilityHP:0002342
  • Progressive visual lossHP:0000529
  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(15)

  • Abnormal social behaviorHP:0012433
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • ChoreoathetosisHP:0001266
  • Chronic lactic acidosisHP:0004925
  • DysarthriaHP:0001260
  • Floppy infantHP:0008947
  • Focal white matter lesionsHP:0007042
  • Frontotemporal cerebral atrophyHP:0006892
  • Gait disturbanceHP:0001288
  • Hearing impairmentHP:0000365
  • MyoclonusHP:0001336
  • Optic atrophyHP:0000648
  • Short attention spanHP:0000736

Very rare (<4-1%)(13)

  • DroolingHP:0002307
  • DysphagiaHP:0002015
  • Gastrointestinal dysmotilityHP:0002579
  • HyperreflexiaHP:0001347
  • MicrocephalyHP:0000252
  • Nasogastric tube feeding in infancyHP:0011470
  • Nonprogressive encephalopathyHP:0007030
  • NystagmusHP:0000639
  • Postnatal growth retardationHP:0008897
  • RigidityHP:0002063
  • Spastic paraparesisHP:0002313
  • TremorHP:0001337
  • VentriculomegalyHP:0002119