Traits

Traits linked to ELMO2

engulfment and cell motility 2

The Human Phenotype Ontology links 28 traits to ELMO2, 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
Ectopic tooth eruption	Always
Facial asymmetry	Always
Full cheeks	Very often (80–99%)
Gingival fibromatosis	Very often (80–99%)
Narrow palate	Very often (80–99%)
Delayed eruption of teeth	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Very often (80–99%)
Visual loss	Very often (80–99%)
Abnormal retinal pigmentation	Often (30–79%)
Abnormal anterior chamber morphology	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Rise in pressure inside skull	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding gums	Always
Hypochromic anemia	Always

Abnormality of the digestive system

Trait	How often it is seen
Gap between large left and right abdominal muscles	Always
Umbilical hernia	Very often (80–99%)

Abnormality of the ear

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

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Often (30–79%)
Hyperkeratosis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Supraumbilical raphe	Always
Breakdown of bone	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Very often (80–99%)
Diabetes mellitus	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Telangiectasia of the skin	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)

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 ELMO2 and how often each is seen. Find out more at hpo.jax.org.

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