Traits

Traits linked to SPRTN

SprT-like N-terminal domain

The Human Phenotype Ontology links 21 traits to SPRTN, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Inability to make and keep healthy fat tissue	Always
Muscle degeneration	Always
Funnel chest	Not recorded
Rounded shoulders	Not recorded
Thoracic kyphoscoliosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Always
Triangular face	Always
Bulbous nose	Not recorded
Frontal bossing	Not recorded
Prominent nasal bridge	Not recorded

Abnormality of limbs

Trait	How often it is seen
Single transverse palmar crease	Always
Curvature of digit	Not recorded
Dropped arches	Not recorded
Elbow flexion contracture	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Posterior subcapsular cataract	Not recorded

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Short stature	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Hepatocellular carcinoma	Always

Abnormality of the integument

Trait	How often it is seen
Premature graying of hair	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 SPRTN 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