CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
ORPHA:646278· ICD-10 Q87.8
Definition
A rare genetic syndromic intellectual disability characterized by intellectual disabilities/neurodevelopmental disorders associated with developmental delay and various others features such as congenital heart malformation and specific facial features.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy