Traits

Traits linked to ATG7

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The Human Phenotype Ontology links 39 traits to ATG7, 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
Ataxia	Always
Delayed ability to walk	Always
Degeneration of cerebrum	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Encephalopathy	Often (30–79%)
Posterior atrophy of corpus callosum	Often (30–79%)
Small cerebellum	Often (30–79%)
Tremor	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Schizophrenia	Sometimes (5–29%)
Self-mutilation	Sometimes (5–29%)
Teeth grinding	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Gum enlargement	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Optic atrophy	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Noninflammatory retina disease	Sometimes (5–29%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Often (30–79%)
Muscle weakness	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Lumbar kyphoscoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	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 ATG7 and how often each is seen. Find out more at hpo.jax.org.

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