Traits

Traits linked to AGO2

argonaute RISC catalytic component 2

The Human Phenotype Ontology links 34 traits to AGO2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Often (30–79%)
Frontal bossing	Often (30–79%)
Open mouth	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Bad bite	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Large cranial suture	Rarely (1–4%)
Scaphocephaly	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Intellectual disability	Always
Motor delay	Always
Receptive language delay	Always
Attention deficit	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of pulmonic valve	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Rarely (1–4%)
Aortic valve has two leaflets rather than three	Rarely (1–4%)
Patent ductus arteriosus	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hypoplastic helices	Sometimes (5–29%)
Hearing impairment	Rarely (1–4%)
Overfolded ears	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Deeply set eye	Often (30–79%)
Visual impairment	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Feeding difficulties	Often (30–79%)

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Sometimes (5–29%)

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 AGO2 and how often each is seen. Find out more at hpo.jax.org.

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