Traits

Traits linked to ELFN1

extracellular leucine rich repeat and fibronectin type III domain containing 1

The Human Phenotype Ontology links 99 traits to ELFN1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Axial dystonia	Always
Babinski sign	Always
Delayed CNS myelination	Always
Delayed speech and language development	Always
EEG with burst suppression	Always
EEG with focal slow activity	Always
Generalized-onset motor seizure	Always
Intellectual disability, severe	Always
Interictal EEG abnormality	Always
Lack of coordination of movement	Always
Leg paralysis	Always
Mild global developmental delay	Always
Moderate global developmental delay	Always
Motor seizure	Always
Repetitive movements	Always
Self-mutilation	Always
Severe global developmental delay	Always
Delayed ability to walk	Very often (80–99%)
Abnormality of balance	Often (30–79%)
Attention deficit	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Often (30–79%)
Clonus	Often (30–79%)
Delayed ability to sit	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized clonic seizure	Often (30–79%)
Inability to walk	Often (30–79%)
Reduced cerebral white matter volume	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Tonic seizure	Often (30–79%)
Unsteady walk	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Epileptic spasm	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Generalized-onset seizure	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Myoclonic seizure	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Broad chin	Always
Coarse facial features	Always
Decreased facial muscle tone	Always
Depressed nasal bridge	Always
Drooling	Always
Drooping lower lip	Always
Eye folds	Always
Full lower lip	Always
High frontal hairline	Always
Long face	Always
Long philtrum	Always
Monobrow	Always
Narrow forehead	Always
Pointed chin	Always
Prominent forehead	Always
Receding chin	Always
Short columella	Always
Short philtrum	Always
Small head present at birth	Always
Smooth philtrum	Always
Sparse eyebrow	Always
Tented mouth	Always
Triangular face	Always
Upward slanting of the opening between the eyelids	Always
Wide mouth	Always
Prominent nasal bridge	Very often (80–99%)
Thin red part of the upper lip	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
EMG: positive sharp waves	Always
Generalized decreased muscle tone	Always
Limb contractures	Always
Low muscle tone in trunk	Always
Poor head control	Always
Spastic tetraparesis	Always
Appendicular spasticity	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)
Muscle degeneration	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Deeply set eye	Always
Wide-set eyes	Always
Cross-eyed	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Front half of foot turns inward	Always
Gap between 1st and 2nd toes	Always
Long fingers	Always
Short fingers or toes	Always
Tapered finger	Always

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always
Acid reflux	Often (30–79%)
Feeding difficulties	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Often (30–79%)
Short stature	Often (30–79%)
Faltering weight	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always

Constitutional symptom

Trait	How often it is seen
Impairment of activities of daily living	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 ELFN1 and how often each is seen. Find out more at hpo.jax.org.

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