Parents

Variants in PPP3CA can cause disorders affecting brain functions with or without seizures. Some variants may also cause dysmorphic features and skeletal abnormalities.

Clinical features
All patients with heterozygous pathogenic or likely pathogenic variants in PPP3CA identified so far have global developmental delay, intellectual disability, and abnormal electrical activity in the brain. In addition, refractory seizures, developmental regression, brain structural abnormalities, hypotonia, and autistic features are often reported. Other features, which are not present in all patients, include dysmorphic features and skeletal abnormalities.

Prevalence/Inheritance
PPP3CA-associated neurodevelopmental disorder is very rare and caused by de novo variants in PPP3CA. It is an autosomal dominant disease.
A group of parents of kids with PPP3CA related neurodevelopmental disorder has partnered with Jordan's Guardian Angels (JGA) for research studies (JordansGuardianAngels.org).