Traits

Traits linked to IFT43

intraflagellar transport 43

The Human Phenotype Ontology links 104 traits to IFT43, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Difficulties with night vision	Always
Optic disc pallor	Always
Spicular pigmentation of the retina	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Blindness	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Abnormally close eyes	Often (30–79%)
Bulging cornea	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic disc drusen	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Retinal atrophy	Often (30–79%)
Retinal pigment epithelial atrophy	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Severe farsightedness	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Widely spaced teeth	Always
Abnormal dentition	Very often (80–99%)
Decreased size of tooth	Very often (80–99%)
Eye folds	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Prominent back of the head	Very often (80–99%)
Big calvaria	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Cystic hygroma	Often (30–79%)
Decreased size of teeth	Often (30–79%)
Deformity of the skull	Often (30–79%)
Drooping lower lip	Often (30–79%)
Early closure of midline skull joint	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Little lower jaw	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Scaphocephaly	Often (30–79%)
Soft skullcap	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)
Taurodontia	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bowing of outer large bone of the forearm	Always
Curving of inner forearm bone	Always
Disproportionately short upper portion of limb	Always
Short fingers or toes	Always
Smaller or shorter than typical limbs	Always
Abnormal shape of shaft of long bone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Short outermost finger bone	Very often (80–99%)
Finger syndactyly	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Postaxial polydactyly	Often (30–79%)
Preaxial polydactyly	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Webbed 2nd-4th toes	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flattened vertebrae	Always
Narrow chest	Always
Small chest	Always
Osteoporosis	Very often (80–99%)
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Hypoplastic ischia	Often (30–79%)
Missing ribs	Often (30–79%)
Short ribs	Often (30–79%)
Wedge-shaped vertebrae	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Broad nail	Always
Short nail	Always
Abnormal fingernails	Very often (80–99%)
Abnormality of the toenail	Very often (80–99%)
Sparse hair	Very often (80–99%)
Dry skin	Not recorded
Ectodermal dysplasia	Not recorded
Fine hair	Not recorded
Hanging skin	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Nephronophthisis	Always
Hyperechogenic kidneys	Often (30–79%)
Polycystic kidney dysplasia	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Always
Abnormality of retina blood vessels	Very often (80–99%)
Narrowing of peripheral lung artery	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Choroid plexus cyst	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Intestinal malrotation	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	Always

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	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 IFT43 and how often each is seen. Find out more at hpo.jax.org.

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