Traits

Traits linked to MED25

mediator complex subunit 25

The Human Phenotype Ontology links 83 traits to MED25, 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
Inability to walk	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
Absent speech development	Often (30–79%)
Cavum septum pellucidum	Often (30–79%)
Epilepsy	Often (30–79%)
Poor speech	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Dilated third ventricle	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Absent reflexes	Not recorded
Decreased motor nerve conduction velocity	Not recorded
Decreased reflex response	Not recorded
Decreased sensation in extremities	Not recorded
Global developmental delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Big lower jaw	Often (30–79%)
Cleft palate	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooping lower lip	Often (30–79%)
Exaggerated cupid's bow	Often (30–79%)
Eye folds	Often (30–79%)
High forehead	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent nasal tip	Often (30–79%)
Short philtrum	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Tented mouth	Often (30–79%)
Grooved tongue	Sometimes (5–29%)
High palate	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Single transverse palmar crease	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Broad outermost bone of the toe	Sometimes (5–29%)
Contracture of the proximal interphalangeal joint of the 3rd finger	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Displaced index finger	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)
Overlapping fingers	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Clouding of the lens of the eye at birth	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Severe farsightedness	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Hunched back	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Distal muscle wasting	Not recorded
Weakness of outermost muscles	Not recorded

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%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Left superior vena cava draining to coronary sinus	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Gallstones	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Always
Enlarged clitoris	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)
Male urethral meatus stenosis	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the integument

Trait	How often it is seen
Port-wine stain on forehead	Always
Sparse hair	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	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 MED25 and how often each is seen. Find out more at hpo.jax.org.

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