ORPHA:353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Body system
- Neurological diseases
- Inheritance pattern
- Not applicable
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:353281 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Delayed speech and language development
- Intellectual disability
- Abnormal facial shape
- Convex nasal ridge
- Atypical behavior
- Emotional lability