Alpha-N-acetylgalactosaminidase deficiency type 1
ORPHA:79279· ICD-10 E77.1
Definition
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal