congenital disorder of glycosylation Ie

Term ID

DOID:0080557

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. https://www.ncbi.nlm.nih.gov/pubmed/23856421

References

• GARD:9831
• OMIM:608799
• ORDO:79322

Ontology

Human Disease   ( DOID:0080557 )