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	Hvor ofte den forekommer
Abnormally small head	Alltid
Decreased depth of eye sockets	Alltid
Delayed eruption of baby teeth	Alltid
Failure of development of between one and six teeth	Alltid
Failure of eruption of tooth	Alltid
Beaked nose	Ofte (30–79 %)
Extra bones within cranial sutures	Ofte (30–79 %)
Large forehead	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Midface retrusion	Ofte (30–79 %)
Narrow mouth	Ofte (30–79 %)
Smooth philtrum	Ofte (30–79 %)
Triangular face	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Prominent veins	Alltid
Abnormal heart rate	Ofte (30–79 %)
Complete right bundle branch block	Ofte (30–79 %)
Pulmonic regurgitation	Ofte (30–79 %)
Ventricular septal hypertrophy	Ofte (30–79 %)
Sudden cardiac death	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low solidness and mass of the bones	Ofte (30–79 %)
Muscle weakness	Ofte (30–79 %)
Short collarbone	Ofte (30–79 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Intention tremor	Alltid
CNS hypomyelination	Ofte (30–79 %)
Hyperintensity of cerebral white matter on MRI	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay	Alltid
Prenatal growth deficiency	Ofte (30–79 %)
Short stature	Ofte (30–79 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Bulging eye	Alltid
Juvenile cataract	Alltid

Abnormality of limbs

Trait	Hvor ofte den forekommer
Femur fracture	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Premature rupture of membranes	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Poor appetite	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Reduced fat tissue below the skin	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Body fails to respond to insulin	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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