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Alpha-N-acetylgalactosaminidase deficiency type 1

ORPHA:79279 · Clinical subtype · Subtype of disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(12)

  • Abnormal brainstem morphologyHP:0002363
  • Abnormal pyramidal signHP:0007256
  • Cerebral visual impairmentHP:0100704
  • Developmental regressionHP:0002376
  • Generalized amyotrophyHP:0003700
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • Muscle weaknessHP:0001324
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • SpasticityHP:0001257

Frequent (79-30%)(12)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • AutismHP:0000717
  • Hemiplegia/hemiparesisHP:0004374
  • HyperkeratosisHP:0000962
  • MyoclonusHP:0001336
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Sensory neuropathyHP:0000763
  • StrabismusHP:0000486
  • TelangiectasiaHP:0001009
  • Telangiectasia of the skinHP:0100585
  • VertigoHP:0002321

Occasional (29-5%)(6)

  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • HepatomegalyHP:0002240
  • Hypertrophic cardiomyopathyHP:0001639
  • LymphedemaHP:0001004
  • ParesthesiaHP:0003401
  • Peripheral neuropathyHP:0009830