congenital disorder of glycosylation Id

Term ID

DOID:0080556

Synonyms

• congenital disorder of glycosylation 1d

Definition

A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/28108845

References

• GARD:9827
• OMIM:601110
• ORDO:79321

Ontology

Human Disease   ( DOID:0080556 )