congenital disorder of glycosylation Ik (DOID:0080563)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1k
Alt IDs: OMIM:608540, ORDO:79327
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.