Traits

Traits linked to AP1G1

adaptor related protein complex 1 subunit gamma 1

The Human Phenotype Ontology links 40 traits to AP1G1, 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
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Agenesis of corpus callosum	Often (30–79%)
Aggressive behavior	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
More active than typical	Often (30–79%)
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Conjunctival hyperemia	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)
Prominent brow	Often (30–79%)
Frontal bossing	Sometimes (5–29%)
Hooded eyelid	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Tall shaped head	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Lumbar scoliosis	Often (30–79%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Thoracic kyphosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Anisometropia	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Short finger	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	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 AP1G1 and how often each is seen. Find out more at hpo.jax.org.

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