Term Name:	congenital disorder of glycosylation Ik
Synonyms:	congenital disorder of glycosylation 1k
Definition:	A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
Ontology:	Human Disease [DOID:0080563]   ( DOID:0080563 )