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
• OMIM:613661
• ORDO:280071

Ontology

Human Disease   ( DOID:0080567 )