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Alpha-N-acetylgalactosaminidase deficiency type 1
rareAlpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
- Identifiers
- MONDO:0012221 OMIM:609241Orphanet:79279
- Causal genes
- NAGA
- Also known as
- alpha-N-acetylgalactosaminidase deficiency, type 1 · N-acetyl-alpha-D-galactosaminidase deficiency type III · NAGA deficiency type 1 · NAGA deficiency, type 1 · neuroaxonal dystrophy, Schindler type
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