Fig. 1

a Pedigree showing segregation of VPS53 in an autosomal recessive pattern. Square and circle represent males and females, respectively. All filled circles and squares are showing affected members. b Brain MRI of (IV: 2) showing subtle hypodensity in gray matter more marked in left basal ganglia and patient (IV: 5) representing cerebellar atrophic changes, giant cisterna magna (indication of cerebellar hypoplasia and growth retardation of the brain). c Chromatograms of the respective parts of VPS53 indicating the carrier parents (III: 1, III: 2), wild-type allele in a normal child (IV: 3), homozygous missense pathogenic variant c. C605T, (p.Pro202Leu), in an affected member (IV: 2 and IV: 5). d Multiple alignment representing complete conservation of the mutated amino acid (p.Pro202Leu) across different species