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Alpha-N-acetylgalactosaminidase deficiency type 1

Disease definition

A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.

ORPHA:79279

Classification level: Subtype of disorder
  • Synonym(s):
    • NAGA deficiency type 1
    • Schindler disease type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.1
  • OMIM: 609241
  • UMLS: C1836544
  • MeSH: -
  • GARD: 116
  • MedDRA: -

Detailed information

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