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Metadata
ID	DOID:0051047
Name	congenital disorder of glycosylation type IIbb
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/
Xrefs	MIM:620546
Parent Relationships	is_a congenital disorder of glycosylation type II is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance