Traits

Traits linked to NEDD4L

NEDD4 like E3 ubiquitin protein ligase

The Human Phenotype Ontology links 69 traits to NEDD4L, 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
Global developmental delay	Always
Gray matter heterotopia	Always
Periventricular nodular heterotopia	Always
Abnormal shape of nervous system	Often (30–79%)
Periventricular heterotopia	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Ataxia	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Choroid plexus cyst	Sometimes (5–29%)
Cortical dysplasia	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Delayed motor skills	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Persistent head lag	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Absent speech development	Not recorded
Intellectual disability	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Often (30–79%)
Dental crowding	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Pierre-Robin sequence	Sometimes (5–29%)
Round face	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Webbed 2nd and 3rd toes	Often (30–79%)
Club feet	Sometimes (5–29%)
Contracture of the proximal interphalangeal joint of the 2nd finger	Sometimes (5–29%)
Contracture of the proximal interphalangeal joint of the 3rd finger	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Webbed 4th-5th finger	Sometimes (5–29%)
Webbed first through fourth toes	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Exodeviation	Sometimes (5–29%)
Horizontal nystagmus	Sometimes (5–29%)
Optic disc pallor	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hernia	Very often (80–99%)
Scoliosis	Very often (80–99%)
Double-Jointed	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Elbow contracture	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Shoulder dislocation	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart valve morphology	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Very often (80–99%)
Pyloric stenosis	Very often (80–99%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding tendency	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Thin skin	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 NEDD4L and how often each is seen. Find out more at hpo.jax.org.

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