congenital disorder of glycosylation Ip

Term ID

DOID:0080567

Synonyms

congenital disorder of glycosylation 1p

Definition

A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. https://www.ncbi.nlm.nih.gov/pubmed/22213132

References

GARD:12396
MIM:613661
ORDO:280071

Ontology

Human Disease ( DOID:0080567 )

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