SPG7 and pontocerebellar hypoplasia: Other, pathogenic variants with an elevated frequency in the Faroese population compared to gnomAD were within genes associated with cancer (FANCE and CD46) [36, 37], Parkinson ́s disease (LRPPRC) [38], Ehlers-Danlos syndrome (COL1A1) [39], platelet-type bleeding disorder type 18 (RASGRP2) [30], butyrylcholinesterase deficiency (BCHE) [40], spastic paraplegia type 7 (SPG7) [41], pontocerebellar hypoplasia (EXOSC3) [42], complement component-6 deficiency (C6) [43], and combined malonic and methylmalonic aciduria (ACSF3) [44].