Traits

Traits linked to GNAI3

G protein subunit alpha i3

The Human Phenotype Ontology links 46 traits to GNAI3, 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
Mandibular condyle hypoplasia	Very often (80–99%)
Abnormality of the jaw joint	Often (30–79%)
Bad bite	Often (30–79%)
Bifid uvula	Often (30–79%)
Big calvaria	Often (30–79%)
Cleft palate	Often (30–79%)
Dental crowding	Often (30–79%)
Facial asymmetry	Often (30–79%)
Full cheeks	Often (30–79%)
Little lower jaw	Often (30–79%)
Narrow mouth	Often (30–79%)
Pits around the ear	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Tongue muscle weakness	Often (30–79%)
Abnormally small tongue	Sometimes (5–29%)
Hamartoma of tongue	Sometimes (5–29%)
Mandibular condyle aplasia	Sometimes (5–29%)
Absence of overlap of anterior upper and lower teeth	Not recorded
Chewing difficulties	Not recorded
Round face	Not recorded
Skin tag behind the ear	Not recorded

Abnormality of the ear

Trait	How often it is seen
Cleft helix	Very often (80–99%)
Abnormality of the crus of the helix	Often (30–79%)
Abnormally shaped ears	Often (30–79%)
Absent/small external ear	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Question mark ear	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Narrow ear canal	Sometimes (5–29%)
Cleft at the superior portion of the pinna	Not recorded
Cupped ear	Not recorded
Hypoplastic superior helix	Not recorded
Low-set ears	Not recorded
Overfolding of the superior helices	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Obstructive sleep apnea	Often (30–79%)
Snoring	Often (30–79%)
Global developmental delay	Sometimes (5–29%)
Speech articulation difficulties	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Sometimes (5–29%)
Ankylosis	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Apnea	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Vein of Galen aneurysmal malformation	Rarely (1–4%)

Abnormality of the digestive system

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

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	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 GNAI3 and how often each is seen. Find out more at hpo.jax.org.

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