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Alpha-N-acetylgalactosaminidase deficiency type 1

Disease Export to PDF
Name:
Alpha-N-acetylgalactosaminidase deficiency type 1
Description:
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
ORPHAcode:
79279
Synonyms:
NAGA deficiency type 1
Schindler disease type 1
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
NAGA
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14