Traits

Traits linked to SECISBP2

SECIS binding protein 2

The Human Phenotype Ontology links 19 traits to SECISBP2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating free T3	Always
Elevated circulating thyroid-stimulating hormone concentration	Always
Increased circulating free T4 concentration	Always
Increased circulating T4 concentration	Always
Abnormal circulating insulin concentration	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Often (30–79%)
Fatty replacement of skeletal muscle	Sometimes (5–29%)
Gowers sign	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Growth delay	Sometimes (5–29%)
Obesity	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Abnormal circulating selenium concentration	Sometimes (5–29%)
Low blood sugar when fasting	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Sometimes (5–29%)
Proximal lower limb muscle weakness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	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 SECISBP2 and how often each is seen. Find out more at hpo.jax.org.

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