Term Name: Schindler disease type 1
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.
Ontology: Human Disease [DOID:0112318]   ( DOID:0112318 )

Relationships
is a type of: Schindler disease