Clinical Characteristics

Summary of the molecular and clinical features of the 21 published patients with PPP3CA pathogenic variants (PMID: 33963760)

Major phenotypes associated with LoF variants
•    GDD/ID (100%)
•    Hypotonia (67%)
•    Epilepsy (78%)
•    Autistic features (78%)

•    Additional electroencephalography (EEG) and neuroimaging features
•    Abnormal EEG (100%)
•    Brain malformations (56%)

Major phenotypes associated with GoF variants
•    GDD/ID (100%)
•    Autistic features (67%)
•    Multiple dysmorphic features (100%)
•    Skeletal dysplasia (100%)

•    Additional electroencephalography (EEG) and neuroimaging features
•    Abnormal EEG (100%)
•    Brain malformations (100%)

Major phenotypes associated with truncating variants
•    DD/ID (100%)
•    Hypotonia (75%)
•    Epilepsy (100%)
•    Early infantile epileptic encephalopathy (onset <6 months) (63%)

•    Additional electroencephalography (EEG) and neuroimaging features
•    Abnormal EEG (100%)
•    Brain abnormalities (50%)