Conditions / Skin
isolated anhidrosis with normal sweat glands
info · Skin
An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.
Signs and symptoms
- Heat intolerance
- Generalized anhidrosis
- Abnormal hair morphology
- Growth abnormality
Also known as: Dann-Epstein-Sohar syndrome