Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia (ACTB), progressive cerebellar atrophy without hypoplasia of pons and vermis (CYB5R3), cerebellar atrophy (MTM1), progressive cerebellar atrophy accompanied with delayed myelination within the centrum semiovale and corona radiata (SPAST). The gene discussed is CYB5R3; the disease is pontocerebellar hypoplasia.