| 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 ) |