Conditions / Syndrome
Cowden syndrome 5
info · Syndrome
A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.
Signs and symptoms
- Hearing impairment
- Furrowed tongue
- Seizure
- Narrow mouth
- Skin tags
- Subcutaneous lipoma
- Progressive macrocephaly
- Intention tremor
- Cataract
- Hyperthyroidism