Conditions / Syndrome
tuberous sclerosis 2
info · Syndrome
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13.
Signs and symptoms
- Hearing impairment
- Adenoma sebaceum
- Dental enamel pits
- Absence of renal corticomedullary differentiation
- Gingival fibromatosis
- Seizure
- Hypomelanotic macule
- Subependymal nodules
- Cortical tubers
- Angiofibromas