Conditions / Syndrome
tuberous sclerosis 1
info · Syndrome
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.
Signs and symptoms
- Cortical tubers
- Seizure
- Renal angiomyolipoma
- Angiofibromas
- Autistic behavior
- Chordoma
- Cafe-au-lait spot
- Adenoma sebaceum
- Specific learning disability
- Dental enamel pits