| Metadata | |
|---|---|
| ID | DOID:0061156 |
| Name | CASGID syndrome |
| 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/ |
| Xrefs | |
| Synonyms |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |