Progressive Encephalopathy with oedema, Hypsarrhythmia and Optic atrophy (PEHO) is a rare, neurodegenerative disorder. Atypical cases are known as PEHO-like, and there is an overlap with ‘early infantile encephalopathy’.
Autosomal recessive variants in CCDC88A, which encodes the actin-binding protein Girdin have been reported in one white British consanguineous family and one consanguineous Saudi family with PEHO/ PEHO-like syndrome (note that there is lack of clinical details and that the authors erroneously quote mutations in CCDC88C in a Table of CCDC88A mutations).