This website provides information on individuals with rare variants in the PPFIA3 gene, including clinical data, molecular data, management and research options.

The PPFIA3-related neurodevelopmental disorder caused by variations in the PPFIA3 gene is a clinically heterogenous condition. PPFIA3 encodes a well-conserved protein-tyrosine phosphatase in the liprin-a scaffolding protein family, which is involved in axonal targeting, synapse specificity, synaptic formation and function. Common characteristics of the syndrome include microcephaly or macrocephaly, delayed development, variable cognitive ability, autistic features, epilepsy, hypotonia, dysmorphic features, and dental anomalies.

Not all individuals with a PPFIA3 variant will have all these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with rare variants in the PPFIA3 gene.

You can reach reach our research team for further information regarding our ongoing PPFIA3 reserach at chao-lab@bcm.edu