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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
ALG13-CDG
Familial clubfoot due to 5q31 microdeletion

ALG13 PITX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALG13
(0.63)
PITX1



Citations in the biomedical literature:


ALG13-CDG
ALG13
Familial clubfoot due to 5q31 microdeletion
PITX1



ALG13-CDG
Familial clubfoot due to 5q31 microdeletion

Synonym(s):
- CDG syndrome type Is
- CDG-Is
- CDG1S
- Congenital disorder of glycosylation type 1s
- Congenital disorder of glycosylation type Is

Synonym(s):
- Hereditary clubfoot due to 5q31 microdeletion

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.