Term Name: Schindler disease type 3
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.
Ontology: Human Disease [DOID:0112320]   ( DOID:0112320 )

Relationships
is a type of: Schindler disease