Traits

Traits linked to VPS37D

VPS37D subunit of ESCRT-I

The Human Phenotype Ontology links 185 traits to VPS37D, 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
Abnormality of the neck	Very often (80–99%)
Abnormally large tongue	Very often (80–99%)
Broad forehead	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Drooping lower lip	Very often (80–99%)
Elf-like facial appearance	Very often (80–99%)
Eye folds	Very often (80–99%)
Full lower lip	Very often (80–99%)
High forehead	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Narrow face	Very often (80–99%)
Narrow opening between the eyelids	Very often (80–99%)
Open bite	Very often (80–99%)
Periorbital edema	Very often (80–99%)
Pointed chin	Very often (80–99%)
Short nose	Very often (80–99%)
Wide mouth	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Abnormality of dental shape	Often (30–79%)
Abnormally small head	Often (30–79%)
Bad bite	Often (30–79%)
Cheekbone underdevelopment	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Dental cavities	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
Increased nuchal translucency	Sometimes (5–29%)
Retinal arteriolar tortuosity	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Abnormal shape of nervous system	Very often (80–99%)
Abnormal social behavior	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Abnormality of balance	Very often (80–99%)
Abnormality of extrapyramidal motor function	Very often (80–99%)
Anxiety	Very often (80–99%)
Ataxia	Very often (80–99%)
Depression	Very often (80–99%)
Dysgraphia	Very often (80–99%)
Fear of loud sounds	Very often (80–99%)
Hyperacusis	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Involuntary movements	Very often (80–99%)
Lack of coordination of movement	Very often (80–99%)
Overfriendliness	Very often (80–99%)
Tremor	Very often (80–99%)
Attention deficit	Often (30–79%)
Autism	Often (30–79%)
Difficulty staying or falling asleep	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Abnormal diencephalon morphology	Sometimes (5–29%)
Atrophy/Degeneration involving the corticospinal tracts	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Very often (80–99%)
Abnormality of the cerebral blood vessels	Often (30–79%)
Disruption of blood oxygen supply to brain	Often (30–79%)
High blood pressure	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Mitral valve prolapse	Often (30–79%)
Narrowing of an artery	Often (30–79%)
Narrowing of peripheral lung artery	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Renovascular hypertension	Often (30–79%)
Stroke	Often (30–79%)
Supravalvular aortic stenosis	Often (30–79%)
Abnormal cardiac septum morphology	Sometimes (5–29%)
Abnormal carotid artery morphology	Sometimes (5–29%)
Abnormal endocardium morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic arch aneurysm	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Overriding aorta	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of pelvic girdle bone	Very often (80–99%)
Hunched back	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Joint stiffness	Often (30–79%)
Low muscle tone	Often (30–79%)
Prominent swayback	Often (30–79%)
Rounded shoulders	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Fusion of joints	Sometimes (5–29%)
Increased bone mineral density	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Vertebral segmentation defect	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the bladder	Often (30–79%)
Pelvic kidney	Often (30–79%)
Renal failure	Often (30–79%)
Abnormal tubulointerstitial morphology	Sometimes (5–29%)
Bladder diverticulum	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Functional abnormality of male internal genitalia	Sometimes (5–29%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Narrowing of the urethra	Sometimes (5–29%)
Polycystic ovaries	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Colonic diverticula	Often (30–79%)
Constipation	Often (30–79%)
Inguinal hernia	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Abnormality of the mucous membrane layer of stomach	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Extra kidney	Sometimes (5–29%)
Gallstones	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Sore in the lining of gastrointestinal tract	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Severe farsightedness	Very often (80–99%)
Cross-eyed	Often (30–79%)
Nystagmus-induced head nodding	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormality of tear production	Sometimes (5–29%)
Absent/small iris	Sometimes (5–29%)
Blue eyes	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Corneal opacity	Sometimes (5–29%)
Enlarged cornea	Sometimes (5–29%)
Flat cornea	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Posterior embryotoxon	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bunion	Often (30–79%)
Curvature of little finger	Often (30–79%)
Dropped arches	Often (30–79%)
Knock knees	Often (30–79%)
Abnormality of the ankle	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Fused forearm bones	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Often (30–79%)
Loose redundant skin	Often (30–79%)
Spinal dimple	Often (30–79%)
Underdeveloped toenails	Often (30–79%)
Abnormal fingerprints	Sometimes (5–29%)
port-wine stain	Sometimes (5–29%)
Prematurely aged appearance	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High blood calcium levels	Very often (80–99%)
Elevated blood creatine phosphokinase	Often (30–79%)
Elevated urine calcium levels	Often (30–79%)
High urine protein levels	Often (30–79%)
Abnormal circulating lipid concentration	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Large ears	Very often (80–99%)
Prominent ear	Very often (80–99%)
Chronic infections of the middle ear	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Sometimes (5–29%)
Hypogonadotropic hypogonadism	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Very often (80–99%)
Hoarse voice	Very often (80–99%)
Inability to produce voice sounds	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Very often (80–99%)
Short stature	Very often (80–99%)
Obesity	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	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 VPS37D and how often each is seen. Find out more at hpo.jax.org.

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