Mutations of LRRC50 cause the absence of both the outer and inner dynein arm complexes along the whole length of the cilia. The cilia are completely immotile. Only very rarely residual twitches are detectable.

Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 1.
Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 2.
Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 3.
Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 4.
Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 5.
Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 6.
Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 7.
Mutations (compound heterozygous) deletion exon 1 + deletion exon 1-12: video 8.
Homozygous mutation c.1349_1350insC p.Pro451Alafs*5: video 1.
Homozygous mutation c.1349_1350insC p.Pro451Alafs*5: video 2.
Homozygous mutation c.1349_1350insC p.Pro451Alafs*5: video 3.