Traits

Traits linked to MED27

mediator complex subunit 27

The Human Phenotype Ontology links 32 traits to MED27, 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
Intellectual disability	Always
Degeneration of cerebellum	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Dystonia	Very often (80–99%)
Motor delay	Very often (80–99%)
Epilepsy	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
CNS hypomyelination	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Pauses in breathing while sleeping	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Drooling	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Exaggerated cupid's bow	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Blue outer white part of eyeball	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Low muscle tone	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Abnormality of the ear

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

Abnormality of the genitourinary system

Trait	How often it is seen
Urinary urgency	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Frontal upsweep of hair	Sometimes (5–29%)

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 MED27 and how often each is seen. Find out more at hpo.jax.org.

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