This website provides information on patients with mutations in the CCDC88A gene, including clinical data, molecular data, management and research options.
The syndrome caused by bi-allelic variants in the CCDC88A gene is Progressive Encephalopathy with oedema, Hypsarrhythmia and Optic atrophy (PEHO)/ PEHO-like syndrome which is a multisystem disorder characterized by profound retardation, early onset epileptic seizures, optic nerve and cerebellar atrophy, pedal oedema, and early death.
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 variants in the CCDC88A gene.
Angela F Brady, FRCP, PhD, North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust , Harrow, UK, email@example.com
Geoffrey Woods, FRCP, FMedSci, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK, firstname.lastname@example.org