Schindler disease, type I

OMIM:609241
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	NAGA
Reference transcript	NM_000262.2
DNA Change	c.973G>A
A.A. Change	p.Glu325Lys
Exon/Intron	exon 8
Mutation Type	substitution
Reference	Bakker HD, de Sonnaville ML, Vreken P, Abeling NG, Groener JE, Keulemans JL, van Diggelen OP.Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? Eur J Hum Genet. 2001 Feb;9(2):91-6.

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