Traits

Traits linked to SEPHS1

selenophosphate synthetase 1

The Human Phenotype Ontology links 27 traits to SEPHS1, 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
Tongue tied	Often (30–79%)
Abnormality of the philtrum	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Eyelid folded in	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Often (30–79%)
Low-set ears	Often (30–79%)
Thickened helices	Often (30–79%)
Hypoplastic superior helix	Sometimes (5–29%)
Stahl ear	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Muscle weakness	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	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 SEPHS1 and how often each is seen. Find out more at hpo.jax.org.

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