Traits

Traits linked to IRF6

interferon regulatory factor 6

The Human Phenotype Ontology links 96 traits to IRF6, 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
Cleft palate	Always
Failure of development of more than six teeth	Always
Abnormality of tooth eruption	Very often (80–99%)
Chewing difficulties	Very often (80–99%)
Cleft upper lip	Very often (80–99%)
Lip pit	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Lower lip pit	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Abnormal of nasal shape	Often (30–79%)
Abnormality of masticatory muscle	Often (30–79%)
Abnormality of the face	Often (30–79%)
Absence of premolar	Often (30–79%)
Absence of six year molar	Often (30–79%)
Absence of upper lateral incisor	Often (30–79%)
Absent central incisor	Often (30–79%)
Adhesion of eyelids	Often (30–79%)
Bad bite	Often (30–79%)
Bifid uvula	Often (30–79%)
Cleft of the mouth	Often (30–79%)
Decreased length of dental roots	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Delayed eruption of permanent teeth	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Disturbance of facial expression	Often (30–79%)
Fibrous syngnathia	Often (30–79%)
Non-midline cleft of the upper lip	Often (30–79%)
One sided cleft palate	Often (30–79%)
Velopharyngeal incompetence	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Abnormal number of permanent teeth	Sometimes (5–29%)
Abnormality of canine	Sometimes (5–29%)
Abnormality of dental shape	Sometimes (5–29%)
Abnormality of septum of nose	Sometimes (5–29%)
Abnormality of shape of baby molar	Sometimes (5–29%)
Abnormality of the salivary glands	Sometimes (5–29%)
Absence of lower premolar	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Both sided cleft lip	Sometimes (5–29%)
Decreased size of teeth	Sometimes (5–29%)
Extra upper front tooth	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Hole in roof of mouth	Sometimes (5–29%)
Increased size of tooth	Sometimes (5–29%)
Missing lateral incisor	Sometimes (5–29%)
Outward turned lips	Sometimes (5–29%)
Peg-shaped maxillary lateral incisors	Sometimes (5–29%)
Right and left cleft palate	Sometimes (5–29%)
Short face	Sometimes (5–29%)
Taurodontia	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Tongue tied	Sometimes (5–29%)
Decreased size of maxilla	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cleft of scrotum	Often (30–79%)
Small labia majora	Often (30–79%)
Smaller than typical growth of scrotum	Often (30–79%)
Undescended testes	Often (30–79%)
Ambiguous external genitalia	Sometimes (5–29%)
Small uterus	Not recorded
Underdeveloped vagina	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Often (30–79%)
Speech articulation difficulties	Often (30–79%)
Behavioral abnormality	Sometimes (5–29%)
Low self-esteem	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Dementia	Not recorded
Spina bifida occulta	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor suck	Often (30–79%)
Malnutrition	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Umbilical hernia	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Fused toes	Very often (80–99%)
Finger syndactyly	Often (30–79%)
Webbed fingers	Often (30–79%)
Split hand	Sometimes (5–29%)
Club feet	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Very often (80–99%)
Abnormality of the nail	Often (30–79%)
Popliteal pterygium	Often (30–79%)
Intercrural pterygium	Not recorded
Pyramidal skinfold extending from the base to the top of the nails	Not recorded

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Abnormal Eustachian tube morphology	Sometimes (5–29%)
Conductive deafness	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint stiffness	Very often (80–99%)
Abnormality of the ribs	Often (30–79%)
Scoliosis	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
All organs on wrong side of body	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Nonketotic hyperglycinemia	Often (30–79%)

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 IRF6 and how often each is seen. Find out more at hpo.jax.org.

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