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Traits
Traits linked to KIF14
kinesin family member 14
The Human Phenotype Ontology links 51 traits to KIF14, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Small cerebellum | Always |
| Small cerebrum | Always |
| Global developmental delay | Very often (80–99%) |
| Gray matter heterotopia | Very often (80–99%) |
| Intellectual disability, severe | Very often (80–99%) |
| Agenesis of cerebellar vermis | Often (30–79%) |
| Agenesis of corpus callosum | Often (30–79%) |
| Arrhinencephaly | Often (30–79%) |
| Delayed motor skills | Often (30–79%) |
| Fewer and broader ridges in brain | Often (30–79%) |
| Increased reflexes | Often (30–79%) |
| Underdeveloped frontal lobe | Often (30–79%) |
| Ventriculomegaly | Often (30–79%) |
| Attention deficit | Sometimes (5–29%) |
| Microlissencephaly | Sometimes (5–29%) |
| Underdevelopment of part of brain called corpus callosum | Sometimes (5–29%) |
| Intellectual disability | Not recorded |
| Poor speech | Not recorded |
| Simplified gyral pattern | Not recorded |
| Small cerebral cortex | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Small uterus | Always |
| Abnormally closed or absent vagina | Often (30–79%) |
| Absent kidney on one side | Often (30–79%) |
| Bilateral renal agenesis | Often (30–79%) |
| Small kidneys | Often (30–79%) |
| Ureteral hypoplasia | Often (30–79%) |
| Vesicoureteral reflux | Often (30–79%) |
| Ureteral agenesis | Sometimes (5–29%) |
| Hyperechogenic kidneys | Rarely (1–4%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Always |
| Sloping forehead | Very often (80–99%) |
| Thin red part of the upper lip | Very often (80–99%) |
| Upward slanting of the opening between the eyelids | Very often (80–99%) |
| Bifid uvula | Often (30–79%) |
| Little lower jaw | Often (30–79%) |
| Nasal tip, upturned | Often (30–79%) |
| Wide nasal bridge | Often (30–79%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormally small eyeball | Often (30–79%) |
| Cross-eyed | Often (30–79%) |
| Optic nerve hypoplasia | Often (30–79%) |
| Blindness | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Arthrogryposis multiplex congenita | Always |
| Abnormal cortical bone morphology | Often (30–79%) |
| Generalized decreased muscle tone | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | Always |
| Growth delay | Very often (80–99%) |
| Short stature | Very often (80–99%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Rocker bottom foot | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Low levels of amniotic fluid | Often (30–79%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Antecubital pterygium | 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 KIF14 and how often each is seen. Find out more at hpo.jax.org.
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