Traits

Traits linked to MED11

mediator complex subunit 11

The Human Phenotype Ontology links 25 traits to MED11, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Myoclonic seizure	Always
Brain degeneration	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Dysgyria	Often (30–79%)
Exaggerated startle response	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Inferior cerebellar vermis hypoplasia	Sometimes (5–29%)
Muscle twitch	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Limb contractures	Always
Low muscle tone in trunk	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 MED11 and how often each is seen. Find out more at hpo.jax.org.

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