A novel splice variant in EMC1 is associated with cerebellar atrophy visual impairment psychomotor retardation with epilepsy

摘要

BackgroundSeveral genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born of a consanguineous marriage, who presented with early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem atrophy.