MFSD8 and Cerebellar atrophy: The identification of MFSD8 mutations in family CIE17 was consistent with an early onset of ceroid lipofuscinosis, neuronal 7 (CLN7) associated with cortical and cerebellar atrophy and an enlargement of the cerebral ventricles in the proband (Fig. 2a-c), a phenotype that usually manifests between 2 and 6 years old [9].