Traits

Traits linked to RAI1

retinoic acid induced 1

The Human Phenotype Ontology links 197 traits to RAI1, by body system: features seen in people with one of the gene's rare conditions.

RAI1

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Mild global developmental delay	Always
Abnormal speech pattern	Very often (80–99%)
Anxiety	Very often (80–99%)
Attention deficit	Very often (80–99%)
Autism	Very often (80–99%)
Communication delay	Very often (80–99%)
Decreased reflex response	Very often (80–99%)
Delayed ability to walk	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Difficulty finding words	Very often (80–99%)
Difficulty sleeping	Very often (80–99%)
Echoing another person's speech	Very often (80–99%)
Intellectual disability, mild	Very often (80–99%)
Pauses in breathing while sleeping	Very often (80–99%)
Repetitive movements	Very often (80–99%)
Self-injurious behavior	Very often (80–99%)
Self-mutilation	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormal temper tantrums	Often (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Brain imaging abnormality	Often (30–79%)
Brief seizures with staring spells	Often (30–79%)
Cognitive impairment	Often (30–79%)
Decreased sensation in extremities	Often (30–79%)
EEG abnormality	Often (30–79%)
Head-banging	Often (30–79%)
Hyperacusis	Often (30–79%)
Impaired pain sensation	Often (30–79%)
Impulsivity	Often (30–79%)
More active than typical	Often (30–79%)
Motor delay	Often (30–79%)
Onychotillomania	Often (30–79%)
Pain insensitivity	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Polyembolokoilamania	Often (30–79%)
Poor fine motor coordination	Often (30–79%)
Short REM sleep	Often (30–79%)
Sleep-wake cycle disturbance	Often (30–79%)
Speech apraxia	Often (30–79%)
Toe walking	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Damage to nerves that sense feeling	Sometimes (5–29%)
Decreased nerve conduction velocity	Sometimes (5–29%)
Decreased number of peripheral myelinated nerve fibers	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Fluid-filled cyst in spinal cord	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)
Absent reflexes	Not recorded
Delayed myelination	Not recorded
Language impairment	Not recorded
Morphological central nervous system abnormality	Not recorded
Poor eye contact	Not recorded
Receptive language delay	Not recorded
Self hugging	Not recorded
Sleep-wake inversion	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Midface retrusion	Always
Square face	Always
Abnormal dentition	Very often (80–99%)
Abnormal facial shape	Very often (80–99%)
Broad forehead	Very often (80–99%)
Broad head shape	Very often (80–99%)
Delayed eruption of baby teeth	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Large face	Very often (80–99%)
Monobrow	Very often (80–99%)
Taurodontia	Very often (80–99%)
Tented mouth	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Big lower jaw	Often (30–79%)
Broad face	Often (30–79%)
Coarse facial features	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooping upper lip	Often (30–79%)
Little lower jaw	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Open mouth	Often (30–79%)
Prominent forehead	Often (30–79%)
Recurrent colds	Often (30–79%)
Short nose	Often (30–79%)
Short philtrum	Often (30–79%)
Triangular face	Often (30–79%)
Velopharyngeal incompetence	Often (30–79%)
Abnormality of dental shape	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Cleft upper lip	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Open bite	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)
Bad bite	Not recorded
Dental crowding	Not recorded
High palate	Not recorded
Prominent nasal tip	Not recorded
Triangular head shape	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Very often (80–99%)
Abnormal feet structure	Often (30–79%)
Broad palm	Often (30–79%)
Curvature of little finger	Often (30–79%)
Decreased/absent ankle reflexes	Often (30–79%)
Dropped arches	Often (30–79%)
Foot drop	Often (30–79%)
Fused toes	Often (30–79%)
Short middle bone of the little finger	Often (30–79%)
Short palm	Often (30–79%)
Abnormality of the forearm	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
Abnormality of the heart	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
Double outlet right ventricle	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Overriding aorta	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Persistent left superior vena cava	Sometimes (5–29%)
Abnormality of the cardiovascular system	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Deeply set eye	Very often (80–99%)
Abnormality of the eye	Often (30–79%)
Close sighted	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Severe farsightedness	Often (30–79%)
Wide-set eyes	Often (30–79%)
Iris nodule	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Farsightedness	Not recorded

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Very often (80–99%)
Abnormality of the outer ear	Often (30–79%)
Chronic infections of the middle ear	Often (30–79%)
Conductive deafness	Often (30–79%)
Hearing impairment	Often (30–79%)
Middle ear malformation	Often (30–79%)
Abnormally shaped ears	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Decreased muscle tone in infant	Very often (80–99%)
Distal muscle wasting	Often (30–79%)
Double-Jointed	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Joint stiffness	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Truncal obesity	Always
Faltering weight	Very often (80–99%)
Obesity	Very often (80–99%)
Faltering weight in infancy	Often (30–79%)
Increased body weight	Often (30–79%)
Short stature	Often (30–79%)
Small for gestational age	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormally shaped kidney	Often (30–79%)
Abnormal localisation of kidneys	Sometimes (5–29%)
Abnormality of the genitourinary system	Sometimes (5–29%)
Abnormality of the ureter	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Urinary tract abnormalities	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Very often (80–99%)
Acid reflux	Often (30–79%)
Chronic constipation	Often (30–79%)
Constipation	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal pineal melatonin secretion	Very often (80–99%)
Abnormality of the thyroid gland	Often (30–79%)
Delayed puberty	Sometimes (5–29%)
Early onset of puberty	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal tracheobronchial morphology	Very often (80–99%)
Abnormality of the pharynx	Very often (80–99%)
Abnormality of the larynx	Often (30–79%)
Spontaneous collapsed lung	Often (30–79%)
Vocal cord polyp	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated serum cholesterol	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Decreased circulating cholesterol level	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of chromosome segregation	Very often (80–99%)
Decreased circulating IgA concentration	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of the immune system	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Very often (80–99%)

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 RAI1 and how often each is seen. Find out more at hpo.jax.org.

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