congenital disorder of glycosylation If

Term ID

DOID:0080558

Synonyms

congenital disorder of glycosylation 1f

Definition

A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11733556

References

GARD:9832
MIM:609180
ORDO:79323

Ontology

Human Disease ( DOID:0080558 )

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