Disease & disorder
COG7-congenital disorder of glycosylation
MONDO:0012118
COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to COG7-congenital disorder of glycosylation. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.