Conditions / Syndrome
CASGID syndrome
info · Syndrome
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 heterozyg
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.
Signs and symptoms
- Axial hypotonia
- Kyphoscoliosis
- Delayed CNS myelination
- Parakeratosis
- Global developmental delay
- Secondary microcephaly
- Subcutaneous nodule
- Reduced eye contact
- Self-injurious behavior
- Agitation
Also known as: Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development