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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
COG1-CDG
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

COG1 COG6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COG1
(0.49)
COG6



Citations in the biomedical literature:


COG1-CDG
COG1
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6



COG1-CDG
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Synonym(s):
- CDG syndrome type IIg
- CDG-IIg
- CDG2G
- Carbohydrate deficient glycoprotein syndrome type IIg
- Congenital disorder of glycosylation type IIg

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare odontologic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.