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
• OMIM:609180
• ORDO:79323

Ontology

Human Disease   ( DOID:0080558 )