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	Cât de frecvent apare
Abnormally small head	Întotdeauna
Decreased depth of eye sockets	Întotdeauna
Delayed eruption of baby teeth	Întotdeauna
Failure of development of between one and six teeth	Întotdeauna
Failure of eruption of tooth	Întotdeauna
Beaked nose	Des (30–79%)
Extra bones within cranial sutures	Des (30–79%)
Large forehead	Des (30–79%)
Little lower jaw	Des (30–79%)
Midface retrusion	Des (30–79%)
Narrow mouth	Des (30–79%)
Smooth philtrum	Des (30–79%)
Triangular face	Des (30–79%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Prominent veins	Întotdeauna
Abnormal heart rate	Des (30–79%)
Complete right bundle branch block	Des (30–79%)
Pulmonic regurgitation	Des (30–79%)
Ventricular septal hypertrophy	Des (30–79%)
Sudden cardiac death	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low solidness and mass of the bones	Des (30–79%)
Muscle weakness	Des (30–79%)
Short collarbone	Des (30–79%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Intention tremor	Întotdeauna
CNS hypomyelination	Des (30–79%)
Hyperintensity of cerebral white matter on MRI	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Growth delay	Întotdeauna
Prenatal growth deficiency	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of the eye

Trait	Cât de frecvent apare
Bulging eye	Întotdeauna
Juvenile cataract	Întotdeauna

Abnormality of limbs

Trait	Cât de frecvent apare
Femur fracture	Des (30–79%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Premature rupture of membranes	Des (30–79%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Poor appetite	Des (30–79%)

Abnormality of the integument

Trait	Cât de frecvent apare
Reduced fat tissue below the skin	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Body fails to respond to insulin	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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