congenital disorder of glycosylation Ia

Term ID

DOID:0080552

Synonyms

• congenital disorder of glycosylation 1a
• PMM2-congenital disorder of glycosylation

Definition

A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation

References

• GARD:9826
• MIM:212065
• ORDO:79318

Ontology

Human Disease   ( DOID:0080552 )