Conditions / Syndrome
photosensitive trichothiodystrophy 3
info · Syndrome
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.
Signs and symptoms
- Hypertonia
- Meckel diverticulum
- Delayed CNS myelination
- Trigonocephaly
- Pyloric stenosis
- Tiger tail banding
- Failure to thrive
- Recurrent infections
- Abdominal adhesions
- Developmental cataract
Also known as: TTD3; trichothiodystrophy complementation group A