ciliary dyskinesia, primary, 48, without situs inversus
MONDO:0031054Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 48, without situs inversus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent central microtubular pair morphology of respiratory motile ciliaHPOHP:0012264
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent pneumoniaHPOHP:0006532
- 1 of 1 reported patient
- Recurrent sinusitisHPOHP:0011108
- 1 of 1 reported patient
- Situs inversus totalisHPOHP:0001696
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NME5HGNC:7853
- Moderate · ClinGen · Autosomal recessive · 2026
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: ciliary dyskinesia, primary, 48, without situs inversus
- Also called
- CILD48