CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES

General Information (adopted from Orphanet):

Synonyms, Signs: IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES
Number of Symptoms 12
OrphanetNr:
OMIM Id: 242670
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0012208) Nonmotile sperm 4 / 7739
2
 (HPO:0002257) Chronic rhinitis 10 / 7739
3
 (HPO:0100582) Nasal polyposis 14 / 7739
4
 (HPO:0000246) Sinusitis 73 / 7739
5
 (HPO:0012265) Ciliary dyskinesia 32 / 7739
6
 (HPO:0012267) Absent respiratory ciliary axoneme radial spokes 1 / 7739
7
 (HPO:0012263) Immotile cilia 7 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Absent mucociliary clearance 1 / 7739
10
 (OMIM) Lack of ciliary axoneme radial spokes by electron microscopy 1 / 7739
11
 (MedDRA:10061768) Chronic respiratory disease 1 / 7739
12
 (OMIM) Immotile sperm 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: