ciliary dyskinesia, primary, 47, and lissencephaly
MONDO:0030346Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 47, and lissencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
10 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.
- LissencephalyHPOHP:0001339
- 7 of 7 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 6 of 6 reported patients
- Respiratory distressHPOHP:0002098
- 5 of 6 reported patients
- SeizureHPOHP:0001250
- 2 of 7 reported patients
- Abnormal mucociliary clearanceHPOHP:0031602
- Agenesis of corpus callosumHPOHP:0001274
- AtelectasisHPOHP:0100750
- BronchiectasisHPOHP:0002110
- Chronic otitis mediaHPOHP:0000389
- Hypoplasia of the corpus callosumHPOHP:0002079
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.
- TP73HGNC:12003
- Strong · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: ciliary dyskinesia, primary, 47, and lissencephaly
- Also called
- CILD47