Conditions / Syndrome
nonphotosensitive trichothiodystrophy 4
info · Syndrome
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
Signs and symptoms
- Trichorrhexis nodosa
- Intellectual disability
- Brittle hair
- Global developmental delay
- Nail dystrophy
- Growth delay
- Small nail
- Woolly hair
- Decreased fertility
- Nail dysplasia
Also known as: AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS syndrome; HAIR-BRAIN SYNDROME; TTD4