Conditions / Skin
autosomal dominant cutis laxa 2
info · Skin · ICD-10: Q82.8
An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.
Signs and symptoms
- Premature skin wrinkling
- Scoliosis
- Mitral regurgitation
- Cutis laxa
Also known as: ADCL2