Alpha-N-acetylgalactosaminidase deficiency type 2

Disease Export to PDF
Name:
Alpha-N-acetylgalactosaminidase deficiency type 2
Description:
A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
ORPHAcode:
79280
Synonyms:
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Kanzaki disease
NAGA deficiency type 2
Schindler disease type 2
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14