PCD - Primary Ciliary Dyskinesia/Bobtail

Respiratory disorder

Description: 
Defects in ciliated cells, particularly in the respiratory cilia
Symptomes: 
Recurrent infection of the upper and lower respiratory tract (sneezing, nasal discharge, cough and chronic bronchitis), hydrocephalus, reduced fertility in males
Age d'aparition: 
from a few weeks to months old
Fréquence: 
21% carriers in European population
Gène impliqué: 
CCDC39
Mutation testée: 
C.286C>T
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
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