Additional file 1 of ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Additional file 1: Supplementary Tables 1 – Haplotypes of the alleles present in the patients in the region surrounding the ATAD3A gene. Supplementary Tables 2 – Summary of reported patients with ATAD3A mutations. Supplementary Tables 3 – Summary of reported variants in the ATAD3A gene. Supplementary Tables 4 – Clinical picture of patients carrying p.Leu77Val variant in addition to a null allele. Supplementary Tables 5 – Sorting of variants according to their impact. Supplementary Fig. 1: Lifespan of patients with deduced combinations of variants. Supplementary Fig. 2: The variants plotted across the ATAD3A protein scheme. Supplementary Tables 6 – Sequences of primers used for long-range PCR and for breakpoint and exon 2 sequencing.