Conditions / Genetic
Clark-Baraitser syndrome
info ยท Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Delayed speech and language development
- Motor delay
- Autistic behavior
- Narrow palpebral fissure
- Upslanted palpebral fissure
- Strabismus
- Hypotonia
- High palate
Also known as: Baraitser syndrome; CLABARS; autosomal dominant intellectual disability 49; autosomal dominant mental retardation 49