Rare diseases · Sign or symptom
Apnea
HP:0002104
What it means
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Rare diseases that can present with this51
Very common80–99%
7Common30–79%
10- Bohring-Opitz syndrome
- KCNQ2-related developmental and epileptic encephalopathy
- Mucopolysaccharidosis type 1
- PLAA-associated neurodevelopmental disorder
- Pontocerebellar hypoplasia type 2
- Primary pulmonary hypoplasia
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Self-limited infantile epilepsy
- Self-limited neonatal epilepsy
- Stüve-Wiedemann syndrome
Sometimes5–29%
31- 3-hydroxy-3-methylglutaric aciduria
- 48,XXYY syndrome
- Alternating hemiplegia of childhood
- Aminoacylase 1 deficiency
- Arachnodactyly-abnormal ossification-intellectual disability syndrome
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Autosomal recessive malignant osteopetrosis
- Bilateral perisylvian polymicrogyria
and 23 more in this range
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: Absence of spontaneous respiration · Apneic episodes · Apnoea
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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.