Traits

Traits linked to CHRNE

cholinergic receptor nicotinic epsilon subunit

The Human Phenotype Ontology links 44 traits to CHRNE, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Always
Fatigable weakness	Always
Fatigable weakness of skeletal muscles	Always
Arthrogryposis multiplex congenita	Not recorded
Bulbar palsy	Not recorded
Decreased lung function due to weak breathing muscles	Not recorded
Decreased muscle mass	Not recorded
Generalized decreased muscle tone	Not recorded
Generalized hypotonia due to defect at the neuromuscular junction	Not recorded
Gowers sign	Not recorded
Low muscle tone	Not recorded
Low muscle tone, in neonatal onset	Not recorded
Muscle degeneration	Not recorded
Muscle spasm	Not recorded
Muscle tissue disease	Not recorded
Muscle weakness	Not recorded
Neck muscle weakness	Not recorded
Tired easily	Not recorded
Type 2 muscle fiber atrophy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Weakness of facial musculature	Always
Bad bite	Not recorded
Bell's palsy	Not recorded
Big lower jaw	Not recorded
High palate	Not recorded
Long face	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Not recorded
Feeding difficulties in infancy	Not recorded
Poor suck	Not recorded
Poor swallowing	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Eye muscle paralysis	Always
Weakness of muscles controlling eye movement	Always
Cross-eyed	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decreased miniature endplate potentials	Not recorded
Decreased size of nerve terminals	Not recorded
Difficulty articulating speech	Not recorded
Motor delay	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Apneic episodes precipitated by illness, fatigue, stress	Not recorded
Breathing difficulties	Not recorded
Respiratory function loss	Not recorded
Sudden episodic apnea	Not recorded

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Not recorded

Abnormality of the voice

Trait	How often it is seen
Weak cry	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CHRNE and how often each is seen. Find out more at hpo.jax.org.

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