Conditions / Genetic
Schindler disease type 1
info · Genetic
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.
Signs and symptoms
- Strabismus
- Developmental regression
- Seizure
- Hypotonia
- Global developmental delay
- Increased urinary O-linked sialopeptides
- Generalized hypotonia
- Severe intellectual disability
- Reduced tissue alpha-N-acetylgalactosaminidase activity
- Nystagmus
Also known as: NAGA deficiency type 1; alpha-N-acetylgalactosaminidase deficiency type 1