Term Name:	congenital disorder of glycosylation Ie
Synonyms:	congenital disorder of glycosylation 1e
Definition:	A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
Ontology:	Human Disease [DOID:0080557]   ( DOID:0080557 )