Traits

Traits linked to ARID1A

AT-rich interaction domain 1A

The Human Phenotype Ontology links 87 traits to ARID1A, 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
Coarse facial features	Always
Delayed eruption of teeth	Always
Full lips	Always
Full lower lip	Always
Long eyelashes	Always
Low frontal hairline	Always
Nasal tip, upturned	Always
Sparse scalp hair	Always
Wide mouth	Always
Prominent eyelashes	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Abnormally small head	Often (30–79%)
Broad nasal tip	Often (30–79%)
Broad philtrum	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High palate	Often (30–79%)
Recurrent colds	Often (30–79%)
Short nose	Often (30–79%)
Short philtrum	Often (30–79%)
Thick nasal alae	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Wide nasal base	Often (30–79%)
Wide nose	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal corpus callosum morphology	Always
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
More active than typical	Always
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Small cerebellum	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Oral aversion	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Absent fifth fingernail	Always
Absent fifth toenail	Always
Excessive hairiness	Always
Small nail	Always
Excessive hair growth	Very often (80–99%)
Small fifth toenail	Often (30–79%)
Underdeveloped fifth fingernail	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Double-Jointed	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Hernia	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Gap between 1st and 2nd toes	Always
Short outermost finger bone	Always
Curvature of digit	Often (30–79%)
Short 5th finger	Often (30–79%)
Short fingers or toes	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Poor suck	Always
Inguinal hernia	Often (30–79%)
Hepatoblastoma	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Drooping upper eyelid	Always
Visual impairment	Often (30–79%)
Close sighted	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always
Abnormality of the genitourinary system	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Growth delay as children	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Always
Hearing impairment	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Often (30–79%)
Recurrent infections	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Papillary thyroid carcinoma	Rarely (1–4%)

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 ARID1A and how often each is seen. Find out more at hpo.jax.org.

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