Term Name:	congenital disorder of glycosylation type IIbb
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.
Ontology:	Human Disease [DOID:0051047]   ( DOID:0051047 )