ODCs

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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

COG8-CDG

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COG8	(0.49)	COG6

Citations in the biomedical literature:

COG8-CDG		Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
	Synonym(s): - CDG syndrome type 2h - CDG syndrome type IIh - CDG-IIh - CDG2H - Carbohydrate deficient glycoprotein syndrome type IIh - Congenital disorder of glycosylation type 2h - Congenital disorder of glycosylation type IIh		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: childhood 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.