Traits

Traits linked to LEMD2

LEM domain nuclear envelope protein 2

The Human Phenotype Ontology links 35 traits to LEMD2, 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
Abnormally small head	Always
Decreased depth of eye sockets	Always
Delayed eruption of baby teeth	Always
Failure of development of between one and six teeth	Always
Failure of eruption of tooth	Always
Beaked nose	Often (30–79%)
Extra bones within cranial sutures	Often (30–79%)
Large forehead	Often (30–79%)
Little lower jaw	Often (30–79%)
Midface retrusion	Often (30–79%)
Narrow mouth	Often (30–79%)
Smooth philtrum	Often (30–79%)
Triangular face	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Prominent veins	Always
Abnormal heart rate	Often (30–79%)
Complete right bundle branch block	Often (30–79%)
Pulmonic regurgitation	Often (30–79%)
Ventricular septal hypertrophy	Often (30–79%)
Sudden cardiac death	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	Often (30–79%)
Muscle weakness	Often (30–79%)
Short collarbone	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Intention tremor	Always
CNS hypomyelination	Often (30–79%)
Hyperintensity of cerebral white matter on MRI	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Juvenile cataract	Always

Abnormality of limbs

Trait	How often it is seen
Femur fracture	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature rupture of membranes	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Poor appetite	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Reduced fat tissue below the skin	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Body fails to respond to insulin	Often (30–79%)

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 LEMD2 and how often each is seen. Find out more at hpo.jax.org.

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