Conditions / Genetic
autosomal dominant intellectual developmental disorder type FRA12A
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13.
Signs and symptoms
- Intellectual disability
- Atypical behavior
- Recurrent lower respiratory tract infections
- Seizure
- Global developmental delay
- Erythroderma
- Hyperkeratosis