Primary ciliary dyskinesia 14
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Sign InDescription
Primary ciliary dyskinesia-14 is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
105