Mutationen des Gens LRRC50 führen zum Verlust der inneren und äußeren Dyneinarme. Die Zilien sind in der Regel komplett immotil, nur sehr selten ist eine Restzuckung detektierbar.

Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 1.
Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 2.
Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 3.
Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 4.
Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 5.
Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 6.
Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 7.
Mutationen (compound heterozygot) Deletion Exon 1 + Deletion Exon 1-12: Video 8.
Homozygote Mutation: c.1349_1350insC p.Pro451Alafs*5: Video 1.
Homozygote Mutation: c.1349_1350insC p.Pro451Alafs*5: Video 2.
Homozygote Mutation: c.1349_1350insC p.Pro451Alafs*5: Video 3.