Mutations of the intermediate heavy chain DNAI1 lead to the loss of the ODA complex in the distal part of the cilia. The cilia beating pattern is considerably reduced in frequency, and many cilia are immotile or show only residual flickering.

Mutations (compound heterozygous) c.48+2_3insT + c.874C>T; p.Gln292*: video 1.
Mutations (compound heterozygous) c.48+2_3insT + c.874C>T; p.Gln292*: video 2.
Mutations (compound heterozygous) c.48+2_3insT + c.874C>T; p.Gln292*: video 3.
Mutations (compound heterozygous) Ic.48+2_3insT + c.874C>T; p.Gln292*: video 4.
Mutations (compound heterozygous) c.48+2_3insT + c.874C>T; p.Gln292*: video 5.
Homozygous mutation c.48+2_3insT: video 1.
Homozygous mutation c.48+2_3insT: video 2.
Homozygous mutation c.48+2_3insT: video 3.
Homozygous mutation c.48+2_3insT: video 4.
Homozygous mutation c.48+2_3insT: video 5.