Traits

Traits linked to KIF22

kinesin family member 22

The Human Phenotype Ontology links 68 traits to KIF22, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormality of limbs	Often (30–79%)
Abnormality of the long bone of foot	Often (30–79%)
Abnormally shaped wrist bones	Often (30–79%)
Absent/small extremities	Often (30–79%)
Irregular wide portion of a long bone	Often (30–79%)
Knock knees	Often (30–79%)
Metaphyseal striations	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Slender finger	Often (30–79%)
Slender long bones of hand	Often (30–79%)
Elbow flexion contracture	Sometimes (5–29%)
Flat end part of innermost thighbone	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Partial hip dislocation	Sometimes (5–29%)
Wind-swept deformity of the knees	Sometimes (5–29%)
Broad outermost finger bone	Not recorded
Delayed bone maturation of the knee cap	Not recorded
Dislocated hip since birth	Not recorded
Dislocated radial head	Not recorded
Flared wide portion of long bone	Not recorded
Long innermost finger bone	Not recorded
Long outermost bone of finger	Not recorded
Narrow neck of thigh bone	Not recorded
Slender innermost bone of finger	Not recorded
Slender outermost bone of finger	Not recorded
Small carpal bones	Not recorded
Small innermost thighbone end part	Not recorded
Streak increase in bone density in wide portion of wide bone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal development of end part of bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Abnormal curve of the backbone	Often (30–79%)
Delayed maturation of end part of long bone	Often (30–79%)
Flattened vertebrae	Often (30–79%)
Fragmented end part of bone	Often (30–79%)
Hunched back	Often (30–79%)
Hypermobility of all joints	Often (30–79%)
Multiple joint dislocation	Often (30–79%)
Neonatal short-trunk short stature	Often (30–79%)
Premature osteoarthritis	Often (30–79%)
Radial head subluxation	Often (30–79%)
Scoliosis	Often (30–79%)
Spondyloepimetaphyseal dysplasia	Often (30–79%)
Kyphoscoliosis	Sometimes (5–29%)
Thoracolumbar kyphosis	Sometimes (5–29%)
Caudal interpedicular narrowing	Not recorded
Delayed bone maturation of end part of digital bone	Not recorded
Flat end part of bone	Not recorded
Generalized decreased muscle tone	Not recorded
Irregular end part of long bone	Not recorded
Irregular vertebral endplates	Not recorded
Large joint dislocations	Not recorded
Low muscle tone	Not recorded
Posterior scalloping of vertebral bodies	Not recorded
Small end part of bone	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Laryngeal stenosis	Often (30–79%)
Laryngotracheomalacia	Often (30–79%)
Neonatal inspiratory stridor	Sometimes (5–29%)
Obstructive lung disease	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Midface retrusion	Always
Flat face	Often (30–79%)
Zygomatic flattening	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Sometimes (5–29%)
Spinal dysraphism	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Small for gestational age	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Soft skin	Not recorded

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 KIF22 and how often each is seen. Find out more at hpo.jax.org.

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