congenital disorder of glycosylation type IIbb

Term ID

DOID:0051047

Synonyms

Definition

A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. https://pubmed.ncbi.nlm.nih.gov/37711075/

References

MIM:620546

Ontology

Human Disease ( DOID:0051047 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type II

autosomal recessive disease congenital disorder of glycosylation type II Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models