Traits

Traits linked to LTBP2

latent transforming growth factor beta binding protein 2

The Human Phenotype Ontology links 43 traits to LTBP2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Microspherophakia	Always
Glaucoma	Very often (80–99%)
Severe near sightedness	Very often (80–99%)
Abnormal Descemet membrane morphology	Often (30–79%)
Corneal opacity	Often (30–79%)
Deep anterior chamber	Often (30–79%)
Ectopia lentis	Often (30–79%)
Enlarged cornea	Often (30–79%)
Enlarged eyeball	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
High eye pressure	Often (30–79%)
Increased tears	Often (30–79%)
Iris degeneration	Often (30–79%)
Reduced anterior scleral thickness	Often (30–79%)
Anisometropia	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Iridodonesis	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Shallow anterior chamber	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Primary congenital glaucoma	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
Narrowing of aortic valve	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Prolonged QTc interval	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint stiffness	Often (30–79%)
Limitation of joint mobility	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eyelid spasm	Often (30–79%)
High palate	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Very often (80–99%)
Short thumb	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Thickened skin	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Corneal stromal edema	Very often (80–99%)

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 LTBP2 and how often each is seen. Find out more at hpo.jax.org.

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