Term Name:	congenital disorder of glycosylation type IIv
Synonyms:
Definition:	A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25.
Ontology:	Human Disease [DOID:0051050]   ( DOID:0051050 )