Additional file 1: of The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Figure S1. Cranial MRI planes of individual i084n. Figure S2. Cranial MRI planes of individual i085n. Figure S3. Cranial MRI planes and clinical pictures of individual i086n. Figure S4. Additional computational scores for TUBA1A variants. Figure S5. Analysis of the variant cluster around amino acid position 400. Figure S6. Comparison of computational scores for TUBA1A variants identified in fetuses and born individuals. Figure S7. Matrix plot of all HPO phenotype categories. Figure S8. Association plots for recurrently affected amino-acid positions and all neuroradiological features. Figure S9. Association plots publications describing â Ľ 5 individuals and all neuroradiological features. Table S1. Barthel Index of Activities of Daily Living [3] of the 3 individuals with TUBA1A variants. (DOCX 2946 kb)