Traits

Traits linked to SNX14

sorting nexin 14

The Human Phenotype Ontology links 73 traits to SNX14, 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
Bulbous nose	Always
Coarse facial features	Always
Full lips	Always
Long philtrum	Very often (80–99%)
Short opening between the eyelids	Very often (80–99%)
Abnormally large tongue	Often (30–79%)
Frontal bossing	Often (30–79%)
Fullness of eyelids	Often (30–79%)
Relatively large head	Often (30–79%)
Broad philtrum	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Increased thickness of skull cap	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Small forehead	Sometimes (5–29%)
Wide nasal base	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Broad face	Not recorded
Delayed eruption of teeth	Not recorded
Eye folds	Not recorded
Nasal tip, upturned	Not recorded
Prominent forehead	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed fine motor development	Always
Delayed motor skills	Always
Delayed social development	Always
Delayed speech and language development	Always
Intellectual disability	Always
Absent/small cerebellum	Very often (80–99%)
Ataxia	Very often (80–99%)
Decreased reflex response	Very often (80–99%)
Degeneration of cerebellum	Very often (80–99%)
Delayed ability to sit	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
Absent speech development	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Wide based walk	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Apraxia	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Hypoplasia of the pons	Sometimes (5–29%)
Retrocerebellar cyst	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Global developmental delay	Not recorded
Inability to walk	Not recorded
Small cerebellum	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Permanent flexion of the finger or toe	Very often (80–99%)
Abnormally shaped skeletal	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Neuropathic spinal arthropathy	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Enlarged liver and spleen	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Very often (80–99%)
Club feet	Often (30–79%)
Curvature of digit	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Often (30–79%)
Increased facial hair growth	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Oligosacchariduria	Sometimes (5–29%)

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 SNX14 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test