Schindler disease type 3

Term ID

DOID:0112320

Synonyms

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

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. https://pubmed.ncbi.nlm.nih.gov/8071745/

References

• GARD:3903
• ORDO:79281

Ontology

Human Disease   ( DOID:0112320 )