Amish, Mennonite, and Hutterite
Genetic Disorder Database

Ciliary dyskinesia, primary, 18

Disorder
OMIM #: #614874  (Click to access OMIM database)
Disorder: Ciliary dyskinesia, primary, 18 
Also known as: CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS  
Clinical
Phenotype: early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance, male infertility, approx. half have situs inversus 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: DNAAF5
Base Change: C>T, at nucleotide 2374
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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