Traits

Traits linked to SEL1L

SEL1L adaptor subunit of SYVN1 ubiquitin ligase

The Human Phenotype Ontology links 62 traits to SEL1L, by body system: features seen in people with one of the gene's rare conditions.

SEL1L

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Ataxia	Always
Babinski sign	Always
Clonus	Always
Delayed speech and language development	Always
Falls	Always
Global developmental delay	Always
Grand mal seizures	Always
High stepping	Always
Inability to coordinate movements when walking	Always
Infantile spasms	Always
Intellectual disability, severe	Always
IQ between 34 and 49	Always
Motor delay	Always
Poor eye contact	Always
Severe global developmental delay	Always
Subcortical cerebral atrophy	Always
Wide based walk	Always
Brisk reflexes	Often (30–79%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)
Leukoencephalopathy	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Always
Abnormally small head	Often (30–79%)
Deep bite	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Full cheeks	Often (30–79%)
Pointed chin	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone in trunk	Always
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Optic atrophy	Often (30–79%)
Glaucoma	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Small thymus	Always
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Scrotum surrounds penis	Always
Short penis	Often (30–79%)
Acute kidney injury	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Sometimes (5–29%)
Patchy baldness	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always
Respiratory function loss	Always
High blood carbon dioxide level	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
High-arched foot	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Episodic vomiting	Always
Poor suck	Always

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Short stature	Always

Abnormal cellular phenotype

Trait	How often it is seen
Agammaglobulinemia	Always

Abnormality of the ear

Trait	How often it is seen
Large ears	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Central hypothyroidism	Always

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Always

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 SEL1L and how often each is seen. Find out more at hpo.jax.org.

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