Preferred Label : Component of conserved oligomeric Golgi complex 7 deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIe is characterised
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.;
ICD-11 synonym : Congenital disorder of glycosylation type 2E; Carbohydrate deficient glycoprotein syndrome type 2E; CDG - [Congenital disorder of glycosylation] syndrome type 2E; CDG syndrome type 2E;
Origin ID : 808184224;
Currated CISMeF NLP mapping
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIe is characterised
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.
