Traits

Traits linked to VPS35L

VPS35 endosomal protein sorting factor like

The Human Phenotype Ontology links 84 traits to VPS35L, by body system: features seen in people with one of the gene's rare conditions.

VPS35L

Abnormality of head or neck

Trait	How often it is seen
Downward slanting of the opening between the eyelids	Always
Highly arched eyebrow	Always
Little lower jaw	Always
Nasal tip, upturned	Always
Relatively large head	Always
Thin red part of the upper lip	Always
Wider-than-typical soft spot of skull	Always
Abnormal cranial suture/fontanelle morphology	Very often (80–99%)
Dandy-Walker malformation	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Big calvaria	Often (30–79%)
Cleft palate	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High, narrow palate	Often (30–79%)
Prominent back of the head	Often (30–79%)
Prominent forehead	Often (30–79%)
Short nose	Often (30–79%)
Cleft of the mouth	Sometimes (5–29%)
Facial hemangioma	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis hypoplasia	Always
Delayed ability to roll over	Always
Delayed ability to sit	Always
Focal impaired awareness seizure	Always
Intellectual disability	Always
Periventricular nodular heterotopia	Always
Severe global developmental delay	Always
Abnormal speech pattern	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Absent/small cerebellum	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal mitral valve morphology	Often (30–79%)
Abnormal tricuspid valve morphology	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Hole in center of heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Narrowing of aortic valve	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
Underdeveloped left heart	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Curving of inner forearm bone	Always
Short 1st long bone of foot	Always
Shortened 1st long bone of hand	Always
Shortening of all outermost bones of the fingers	Always
Underdeveloped inner large forearm bone	Always
Extra finger	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Poorly ossified vertebrae	Always
Speckled calcifications in end part of bone	Always
Low muscle tone	Very often (80–99%)
Hunched back	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormality of the hip bone	Sometimes (5–29%)
Missing part of vertebrae	Sometimes (5–29%)
Missing ribs	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal anus position	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Birth defect that causes a hole in the innermost layer at the back of the eye	Always
Wide-set eyes	Always
Abnormally small eyeball	Often (30–79%)
Cat eye	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always
Hydronephrosis	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)

Growth abnormality

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

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Absent/small nipples	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Small adrenal glands	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Small fingernail	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 VPS35L and how often each is seen. Find out more at hpo.jax.org.

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