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Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Huntington disease
Juvenile Huntington disease
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Synonym(s):
- Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 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:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GRM1 Q13255604473
No signs/symptoms info available.