Schindler disease type 1

Term ID

DOID:0112318

Synonyms

• alpha-N-acetylgalactosaminidase deficiency type 1
• NAGA deficiency type 1

Definition

A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/2889023/

References

• GARD:116
• OMIM:609241
• ORDO:79279

Ontology

Human Disease   ( DOID:0112318 )