congenital disorder of glycosylation type IIz

Term ID

DOID:0051053

Synonyms

Definition

A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/35262690/

References

• MIM:620201

Ontology

Human Disease   ( DOID:0051053 )