Term Name:	congenital disorder of glycosylation type IIz
Synonyms:
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.
Ontology:	Human Disease [DOID:0051053]   ( DOID:0051053 )