Traits

Traits linked to VAC14

VAC14 component of PIKFYVE complex

The Human Phenotype Ontology links 106 traits to VAC14, by body system: features seen in people with one of the gene's rare conditions.

VAC14

Abnormality of head or neck

Trait	How often it is seen
Abnormal occipital bone morphology	Often (30–79%)
Abnormal parietal bone morphology	Often (30–79%)
Abnormality of tooth part	Often (30–79%)
Broad secondary alveolar ridge	Often (30–79%)
Decreased bone formation of skull	Often (30–79%)
Decreased volume of lip	Often (30–79%)
Drooling	Often (30–79%)
Early loss of baby teeth	Often (30–79%)
Excessive salivation	Often (30–79%)
High forehead	Often (30–79%)
High, narrow palate	Often (30–79%)
Large cranial suture	Often (30–79%)
Little lower jaw	Often (30–79%)
Long, narrow head	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Redundant neck skin	Often (30–79%)
Short chin	Often (30–79%)
Short philtrum	Often (30–79%)
Short upper lip	Often (30–79%)
Small head present at birth	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Gingival recession	Sometimes (5–29%)
Increased nuchal translucency	Sometimes (5–29%)
Narrow nasal base	Sometimes (5–29%)
Retraction of the tongue	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Absent outermost bone of big toe	Very often (80–99%)
Absent outermost hand bone	Very often (80–99%)
Short innermost big toe bone	Very often (80–99%)
Abnormal rhythmic movements of ankle	Often (30–79%)
Abnormalities of the fingers	Often (30–79%)
Absent 1st long bone of hand	Often (30–79%)
Absent thumb	Often (30–79%)
Absent/small 1st long bone of foot	Often (30–79%)
Front half of foot turns inward	Often (30–79%)
Rocker bottom foot	Often (30–79%)
Short finger	Often (30–79%)
Short middle bone of finger	Often (30–79%)
Short toe	Often (30–79%)
Shortening of all outermost bone of the toes	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Tapered finger	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Flared wide portion of long bone	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Slender long bones with narrow shaft	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Dystonia	Always
Loss of ability to walk	Always
Unsteady walk	Always
Agenesis of corpus callosum	Often (30–79%)
Arrhinencephaly	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Global developmental delay	Often (30–79%)
High stepping	Often (30–79%)
Loss of brain cells	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Small cerebellum	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Abnormal craniofacial muscle tone	Not recorded
Delayed speech and language development	Not recorded
Increased reflexes	Not recorded
Loss of developmental milestones	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Often (30–79%)
Enlarged heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Narrowing of kidney artery	Sometimes (5–29%)
Renovascular hypertension	Sometimes (5–29%)
Tetralogy of Fallot	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Always
Abnormal shape of pelvis bone	Often (30–79%)
Absent bone maturation in sternum	Often (30–79%)
Absent/small collarbone	Often (30–79%)
Excessive inward curvature of lower spine	Often (30–79%)
Generalized low muscle tone in neonate	Often (30–79%)
Low muscle tone	Often (30–79%)
Absent/small shoulder blade	Sometimes (5–29%)
Short ribs	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball on both sides	Often (30–79%)
Bulging eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Hardening of skin and connective tissue	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Short penis	Often (30–79%)
Enlarged clitoris	Sometimes (5–29%)
Small labia majora	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Often (30–79%)
Low-set ears	Often (30–79%)
Hearing impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Often (30–79%)
Severe faltering weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Pyloric stenosis	Sometimes (5–29%)
Poor swallowing	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)
Hydrops fetalis	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Absent/small nipples	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Absent/small nails	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 VAC14 and how often each is seen. Find out more at hpo.jax.org.

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