Traits

Traits linked to EDEM3

ER degradation enhancing alpha-mannosidase like protein 3

The Human Phenotype Ontology links 34 traits to EDEM3, 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
Bulbous nose	Often (30–79%)
Eye folds	Often (30–79%)
Low hanging columella	Often (30–79%)
Narrow eyelid opening	Often (30–79%)
Receding chin	Often (30–79%)
Short philtrum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Fullness around the eyes	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Low hairline at back of neck	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)
Thickened helices	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Periventricular leukomalacia	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Nasogastric tube feeding in infancy	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hydrocele testis	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
port-wine stain	Sometimes (5–29%)

Abnormality of the musculoskeletal system

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

Laboratory abnormality

Trait	How often it is seen
Abnormal protein N-linked glycosylation	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 EDEM3 and how often each is seen. Find out more at hpo.jax.org.

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