Screenshot of Figure 1: Geno- and phenotypic spectrum of the HPDL-related neurological syndrome. A. Disease-associated variants identified in the cohort, annotated along the protein primary structure. Protein-truncating variants are depicted toward the top and nontruncating variants downward.

Quantitative unbiased natural history modeling of HPDL-related disease identifies three distinct phenotypes bit.ly/4b9xODW #NeuroGenetics #SPG83 #GenotypePhenotype