Traits

Traits linked to KIFBP

kinesin family binding protein

The Human Phenotype Ontology links 56 traits to KIFBP, 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
Abnormally small head	Very often (80–99%)
Cleft palate	Very often (80–99%)
Failure of development of more than six teeth	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Bulbous nose	Not recorded
Corners of eye widely separated	Not recorded
Decreased size of maxilla	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Drooping lower lip	Not recorded
Full lips	Not recorded
Highly arched eyebrow	Not recorded
Monobrow	Not recorded
Prominent nasal bridge	Not recorded
Short neck	Not recorded
Short philtrum	Not recorded
Thick eyebrow	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Specific learning disability	Very often (80–99%)
More grooves in brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Widened subarachnoid space	Sometimes (5–29%)
Small brainstem	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cat eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Farsightedness	Often (30–79%)
Enlarged cornea	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Blue outer white part of eyeball	Not recorded
Corneal ulceration	Not recorded
Damage to outer layer of the cornea of the eye	Not recorded

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Often (30–79%)
Finger syndactyly	Sometimes (5–29%)
Internally rotated hips	Sometimes (5–29%)
Curvature of little finger	Not recorded
Small hand	Not recorded
Tapered finger	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Cleft of scrotum	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic regurgitation	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Sometimes (5–29%)
Low-set ears	Not recorded

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

Growth abnormality

Trait	How often it is seen
Short stature	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 KIFBP and how often each is seen. Find out more at hpo.jax.org.

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