Conditions / Syndrome
nonphotosensitive trichothiodystrophy 6
info · Syndrome
A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.
Signs and symptoms
- Decreased mean corpuscular volume
- Short stature
- Tiger tail banding
- Dry skin
- Increased HbA2 hemoglobin
- Microcephaly
- Brittle hair
- Global developmental delay
- Ichthyosis
- Moderate intellectual disability
Also known as: TTD6