Traits

Traits linked to ARID2

AT-rich interaction domain 2

The Human Phenotype Ontology links 163 traits to ARID2, by body system: features seen in people with one of the gene's rare conditions.

ARID2

Abnormality of head or neck

Trait	How often it is seen
Broad nasal tip	Always
Coarse facial features	Always
Dandy-Walker malformation	Always
Deep laugh lines	Always
Deep philtrum	Always
Delayed eruption of teeth	Always
Dental crowding	Always
Downward slanting of the opening between the eyelids	Always
Exaggerated cupid's bow	Always
Facial shape deformation	Always
Frontal bossing	Always
Full cheeks	Always
Full lower lip	Always
Full upper lip	Always
Fullness around the eyes	Always
Gum enlargement	Always
High forehead	Always
High frontal hairline	Always
Large face	Always
Little lower jaw	Always
Long philtrum	Always
Midface retrusion	Always
Narrow eyelid opening	Always
Prominent forehead	Always
Receding chin	Always
Thick nasal alae	Always
Thin red part of the upper lip	Always
Wide mouth	Always
Wide nose	Always
Prominent eyelashes	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Broad philtrum	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Extra bones within cranial sutures	Often (30–79%)
Eye folds	Often (30–79%)
Low frontal hairline	Often (30–79%)
Monobrow	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Recurrent colds	Often (30–79%)
Short nose	Often (30–79%)
Short philtrum	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Wide nasal base	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Abnormally small head	Rarely (1–4%)
High, narrow palate	Not recorded
Large forehead	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal periventricular white matter morphology	Always
Absent speech development	Always
Bilateral tonic-clonic seizure with generalized onset	Always
Delayed ability to sit	Always
Delayed ability to walk	Always
Delayed fine motor development	Always
Delayed speech and language development	Always
Extra-axial cerebrospinal fluid accumulation	Always
Fluid-filled sac located in membrane surrounding brain or spinal cord	Always
Global developmental delay	Always
Infantile spasms	Always
More active than typical	Always
Neurodevelopmental delay	Always
Rise in pressure inside skull	Always
Short attention span	Always
Thin corpus callosum	Always
Tonic seizure	Always
Typical absence seizure	Always
Intellectual disability	Very often (80–99%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Periventricular leukomalacia	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Auditory hypersensitivity	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Oral aversion	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Tic disorder	Sometimes (5–29%)
Motor delay	Not recorded
Repetitive movements	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club feet	Always
Curvature of digit	Always
Curvature of little finger	Always
Short foot	Always
Short outermost finger bone	Always
Short thighbone	Always
Single transverse palmar crease	Always
Small hand	Always
Tapered finger	Always
Short 5th finger	Often (30–79%)
Short long bone of foot	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Short fingers or toes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Always
Severely decreased muscle tone	Always
Decreased muscle tone in infant	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Diaphragmatic eventration	Sometimes (5–29%)
Hernia	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always
Enlarged vein in esophagus	Always
Inguinal hernia	Always
Liver inflammation	Always
Scar tissue replaces healthy tissue in the liver	Always
Umbilical hernia	Always
Feeding difficulties	Very often (80–99%)
Acid reflux	Often (30–79%)
Hepatoblastoma	Rarely (1–4%)
Constipation	Not recorded

Abnormality of the eye

Trait	How often it is seen
Farsightedness	Always
Outward facing eye ball	Always
Wide-set eyes	Always
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Visual impairment	Often (30–79%)
Close sighted	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
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 prenatal development or birth

Trait	How often it is seen
Calcified placenta	Always
High levels of amniotic fluid	Always
Induced vaginal delivery	Always
Premature birth	Always
Shoulder dystocia	Always

Abnormality of the genitourinary system

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

Abnormality of the integument

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

Growth abnormality

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

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Hearing impairment	Often (30–79%)
Low-set ears	Often (30–79%)
Conductive deafness	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Always
Unusual VZV skin infection	Always
Aspiration pneumonia	Often (30–79%)
Recurrent infections	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Excess fluid in lungs	Always
High liver enzymes	Always

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 ARID2 and how often each is seen. Find out more at hpo.jax.org.

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