3p25.3 microdeletion syndrome
ORPHA:435638· ICD-10 Q93.5
Definition
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal