Conditions / Syndrome
nonphotosensitive trichothiodystrophy 5
info · Syndrome
A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A
A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
Signs and symptoms
- Short stature
- Gait ataxia
- Profound intellectual disability
- Tiger tail banding
- Sparse eyebrow
- Sparse hair
- Recurrent infections
- Dandy-Walker malformation
- Decreased testicular size
- Widely spaced primary teeth
Also known as: TTD5