primary ciliary dyskinesia 16
Findings
No curated finding names primary ciliary dyskinesia 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013525), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
9 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.
- Abnormal ciliary motilityHPOHP:0012262
- 3 of 3 reported patients
- Absent outer dynein armsHPOHP:0012256
- 3 of 3 reported patients
- Chronic otitis mediaHPOHP:0000389
- 3 of 3 reported patients
- Chronic rhinitisHPOHP:0002257
- 3 of 3 reported patients
- Situs inversus totalisHPOHP:0001696
- 3 of 3 reported patients · Congenital onset
- BronchiectasisHPOHP:0002110
- 2 of 3 reported patients
- Chronic sinusitisHPO
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.
- HGNC:23247HGNC:23247
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 16
- Also called
- CILD16ciliary dyskinesia, primary, type 16DNAL1 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAL1primary ciliary dyskinesia type 16