Term Name:	CASGID syndrome
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.
Ontology:	Human Disease [DOID:0061156]   ( DOID:0061156 )