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Alpha-N-acetylgalactosaminidase deficiency type 2

ORPHA:79280 · Clinical subtype · Subtype of disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(9)

  • Angiokeratoma corporis diffusumHP:0001071
  • HyperkeratosisHP:0000962
  • Lip telangiectasiaHP:0000214
  • Mild intellectual disabilityHP:0001256
  • PapuleHP:0200034
  • Subcutaneous noduleHP:0001482
  • Telangiectasia of the oral mucosaHP:0007428
  • Telangiectasia of the skinHP:0100585
  • VertigoHP:0002321

Frequent (79-30%)(9)

  • CardiomegalyHP:0001640
  • Coarse facial featuresHP:0000280
  • Depressed nasal bridgeHP:0005280
  • Hearing impairmentHP:0000365
  • LymphedemaHP:0001004
  • Opacification of the corneal stromaHP:0007759
  • Peripheral neuropathyHP:0009830
  • Thick vermilion borderHP:0012471
  • TinnitusHP:0000360