Definition

A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.

[1]

Synonyms

alpha-N-acetylgalactosaminidase deficiency type 3
NAGA deficiency type 3

Cross References

Parent Terms

Schindler disease

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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