Of interest, we identified 13 patients carrying 15 rare heterozygous variants, all enriched in pathways of neurodegeneration - multiple diseases (2 in WNT16, 3 in RYR3, 2 in RYR1) and ALS pathway (1 in HNRNPA2B1, 1 in NUP205, 3 in CAPN2, 3 in NUP214) in Kyoto Encyclopedia of Genes and Genomes database. Here, NUP214 is linked to amyotrophic lateral sclerosis.