A case report details two siblings with spastic paraplegia and psychomotor retardation linked to HACE1 gene variants. This study contributes to the understanding of genetic factors in rare neurological disorders.
two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with hace1 variants a case report and literature review
Original title: “Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.”