While EHHADH is primarily recognized for its metabolic function, clinical genomic databases such as DECIPHER (Firth et al., 2009) have documented patients with EHHADH variants presenting with neurodevelopmental phenotypes including epileptic encephalopathy, microcephaly, and cone-rod dystrophy, suggesting potential developmental roles beyond fatty acid metabolism. The gene discussed is EHHADH; the disease is Cone rod dystrophy.