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
MIM:608799
ORDO:79322

Ontology

Human Disease ( DOID:0080557 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type I

autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models