Conditions / Syndrome
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
info · Syndrome
A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1.
Signs and symptoms
- Delayed ability to sit
- Intellectual disability
- Global developmental delay
- Motor delay
- Delayed ability to walk
- Delayed speech and language development
- Upslanted palpebral fissure
- Clinodactyly
- Atrial septal defect
- Hypertelorism
Also known as: CDK13-Related CHDFIDD; CDK13-Related Disorder; CHDFIDD