central hypoventilation syndrome, congenital, 3
MONDO:0030539Mondo
Findings
No curated finding names central hypoventilation syndrome, congenital, 3 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
8 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.
- ApneaHPOHP:0002104
- 2 of 2 reported patients
- Central hypoventilationHPOHP:0007110
- 2 of 2 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 2 reported patients
- Episodic hypertensionHPOHP:0000875
- 2 of 2 reported patients
- Episodic vomitingHPOHP:0002572
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Heat intoleranceHPOHP:0002046
- 2 of 2 reported patients
- Respiratory failureHPOHP:0002878
- 2 of 2 reported patients · Neonatal onset
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.
- LBX1HGNC:16960
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: central hypoventilation syndrome, congenital, 3
- Also called
- CCHS3