Conditions / Syndrome
photosensitive trichothiodystrophy 1
info · Syndrome
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
Signs and symptoms
- Trichorrhexis nodosa
- Retrognathia
- Cutaneous photosensitivity
- Trichoschisis
- Pili torti
- Small nail
- Intestinal obstruction
- Strabismus
- Malabsorption
- Short stature
Also known as: TTD1