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Metadata
ID	DOID:0051053
Name	congenital disorder of glycosylation type IIz
Definition	A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/35262690/
Xrefs	MIM:620201
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