Rare diseases · Sign or symptom
Hypoventilation
Slow breathing
HP:0002791
What it means
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal.
Rare diseases that can present with this11
Very common80–99%
1Sometimes5–29%
8- Autosomal recessive polycystic kidney disease
- Bethlem muscular dystrophy
- Charcot-Marie-Tooth disease type 4C
- Laminin subunit alpha 2-related congenital muscular dystrophy
- MOGS-CDG
- Proximal spinal muscular atrophy
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- Synaptic congenital myasthenic syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Alveolar hypoventilation · Respiratory depression · Under breathing
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.