Alpha-N-acetylgalactosaminidase deficiency type 3
ORPHA:79281· ICD-10 E77.1
Definition
A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood