Conditions / Syndrome
Coffin-Siris syndrome 12
info · Syndrome
A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in th
A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Epicanthus
- Feeding difficulties
- Prominent nasal tip
- Strabismus
- Downslanted palpebral fissures
- Autistic behavior
- Failure to thrive
- Bulbous nose
Also known as: CSS12