Tuberous sclerosis 2
Tuberous sclerosis 2
Definition
An autosomal dominant syndrome caused by pathogenic variants in the TSC2 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.
Also known as TSC2-related tuberous sclerosis, tuberous sclerosis 2, tuberous sclerosis type 2, tuberous sclerosis-2 — per MONDO