Traits

Traits linked to ASCL1

achaete-scute family bHLH transcription factor 1

The Human Phenotype Ontology links 18 traits to ASCL1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal autonomic nervous system physiology	Very often (80–99%)
Central sleep apnea	Very often (80–99%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Cancer of early nerve cells	Sometimes (5–29%)
Ganglioneuroma	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Very often (80–99%)
Acid reflux	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing dysregulation	Very often (80–99%)
Central hypoventilation	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Small for gestational age	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)

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 ASCL1 and how often each is seen. Find out more at hpo.jax.org.

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