Alpha-N-acetylgalactosaminidase deficiency type 2
ORPHA:79280· ICD-10 E77.1
Definition
A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adult