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SLC35A2-CDG
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Synonym(s):
- CDG syndrome type 2m
- CDG syndrome type IIm
- CDG-IIm
- CDG2M
- Congenital disorder of glycosylation type 2m
- Congenital disorder of glycosylation type IIm
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC35A2 P78381314375
No signs/symptoms info available.