Cytoscape Web
Click node...

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic intellectual deficit
Severe intellectual deficit and progressive spastic paraplegia
Synonym(s):
- Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
GRID2 O43424602368
No signs/symptoms info available.