CASGID syndrome

Term ID

DOID:0061156

Synonyms

• Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development

Definition

A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32. https://pubmed.ncbi.nlm.nih.gov/37151363/

References

• MIM:618339

Ontology

Human Disease   ( DOID:0061156 )