congenital disorder of glycosylation Il

Term ID

DOID:0080564

Synonyms

congenital disorder of glycosylation 1l

Definition

A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/26453364

References

GARD:9839
OMIM:608776
ORDO:79328

Ontology

Human Disease ( DOID:0080564 )

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

Citations