Clinical validation from the DECIPHER database identified patient (id: 369190) carrying compound heterozygous EHHADH variants and presenting with multisystem developmental abnormalities, including cone/cone-rod dystrophy, epileptic encephalopathy, and microcephaly, thus providing independent clinical evidence for broader developmental roles of EHHADH extending beyond craniofacial morphogenesis. The gene discussed is EHHADH; the disease is Cone rod dystrophy.