Traits

Traits linked to XYLT2

xylosyltransferase 2

The Human Phenotype Ontology links 79 traits to XYLT2, by body system: features seen in people with one of the gene's rare conditions.

XYLT2

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Retinal peau d'orange	Always
Angioid streaks	Very often (80–99%)
Light eye color	Very often (80–99%)
Retinal detachment	Very often (80–99%)
Visual loss	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Absent/small lens	Often (30–79%)
Choroidal neovascularization	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Lazy eye	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Visual impairment	Often (30–79%)
Close sighted	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Macular degeneration	Sometimes (5–29%)
Optic disc drusen	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always
Dysplastic aortic valve	Always
Mitral valve prolapse	Always
Hole in heart wall separating two lower heart chambers	Often (30–79%)
High blood pressure	Sometimes (5–29%)
Intermittent claudication	Sometimes (5–29%)
Renovascular hypertension	Sometimes (5–29%)
Weak pulse	Sometimes (5–29%)
Cardiac failure	Rarely (1–4%)
Mitral stenosis	Rarely (1–4%)
Plaque build-up in arteries supplying blood to heart	Rarely (1–4%)
Restrictive cardiomyopathy	Rarely (1–4%)
Stroke	Rarely (1–4%)
Accelerated plaque build-up in arteries	Not recorded
Angina pectoris	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Compression fracture of a vertebral body	Always
Flattened vertebrae	Always
Abnormal intervertebral disk morphology	Very often (80–99%)
Disproportionate short-trunked short stature	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Thoracic kyphosis	Very often (80–99%)
Muscle weakness	Often (30–79%)
Pigeon chest	Often (30–79%)
Shield chest	Often (30–79%)
Thin bony cortex	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Osteopenia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the eyebrow	Very often (80–99%)
Short neck	Very often (80–99%)
Decreased facial muscle tone	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Webbed neck	Often (30–79%)
Decreased volume of lip	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
White oral mucosal macule	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always
Femur fracture	Often (30–79%)
Long fingers	Often (30–79%)
Long slender fingers	Often (30–79%)
Overlapping toe	Often (30–79%)
Long toe	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Abnormal antihelix morphology	Sometimes (5–29%)
Thickened helices	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hanging skin	Often (30–79%)
Yellow papule	Often (30–79%)
Hyperelastic skin	Sometimes (5–29%)
Civatte bodies	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Gastrointestinal bleeding	Often (30–79%)
Retinal bleeding	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Unsteady walk	Often (30–79%)
Intellectual disability	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Duodenal ulcer	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Unilateral cryptorchidism	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Decreased DLCO	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Swelling caused by excess lymph fluid under skin	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 XYLT2 and how often each is seen. Find out more at hpo.jax.org.

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