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ALG13-CDG
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked non-syndromic intellectual deficit
Brachydactyly - elbow wrist dysplasia
Dentatorubral pallidoluysian atrophy
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Synonym(s):
- CDG syndrome type Is
- CDG-Is
- CDG1S
- Congenital disorder of glycosylation type 1s
- Congenital disorder of glycosylation type Is
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic 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: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ALG13 Q9NP73300776
No signs/symptoms info available.