Traits

Traits linked to HECW2

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

The Human Phenotype Ontology links 39 traits to HECW2, 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
Abnormal cerebral white matter morphology	Always
Absent speech development	Always
Degeneration of cerebrum	Always
Disorder of involuntary muscle movements	Always
Dystonia	Always
Encephalopathy	Always
Generalized-onset seizure	Always
Global developmental delay	Always
Intellectual disability	Always
Ventriculomegaly	Always
Epilepsy	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Recurrent hand flapping	Often (30–79%)
Self-injurious behavior	Sometimes (5–29%)
Delayed ability to walk	Not recorded
EEG abnormality	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Bulbous nose	Not recorded
Corners of eye widely separated	Not recorded
Depressed nasal bridge	Not recorded
Eye folds	Not recorded
Full lower lip	Not recorded
High, narrow palate	Not recorded
Midface retrusion	Not recorded
Nasal tip, upturned	Not recorded
Prominent forehead	Not recorded
Sparse eyebrow	Not recorded
Thick eyebrow	Not recorded
Wide mouth	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Often (30–79%)
Cross-eyed	Often (30–79%)
Deeply set eye	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone	Always
Osteopenia	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Nasogastric tube feeding	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Not recorded

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 HECW2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test