Traits

Traits linked to CHAT

choline O-acetyltransferase

The Human Phenotype Ontology links 17 traits to CHAT, 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
Bulbar palsy	Always
Fatigable weakness	Always
Arthrogryposis multiplex congenita	Not recorded
Decreased lung function due to weak breathing muscles	Not recorded
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Not recorded
Generalized hypotonia due to defect at the neuromuscular junction	Not recorded
Type 2 muscle fiber atrophy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Not recorded
Drooping upper eyelid	Not recorded
Weakness of muscles controlling eye movement	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
Sudden episodic apnea	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor suck	Not recorded
Poor swallowing	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decreased miniature endplate potentials	Always

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 CHAT and how often each is seen. Find out more at hpo.jax.org.

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