Traits

Traits linked to MEF2C

myocyte enhancer factor 2C

The Human Phenotype Ontology links 45 traits to MEF2C, 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
Absent speech development	Always
Delayed ability to sit	Always
Delayed ability to walk	Always
Intellectual disability, severe	Always
Motor delay	Always
Poor eye contact	Always
Autism spectrum disorder	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Epilepsy	Very often (80–99%)
Inability to walk	Very often (80–99%)
Abnormal shape of nervous system	Often (30–79%)
Dilated fourth ventricle	Often (30–79%)
Repetitive movements	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormal periventricular white matter morphology	Sometimes (5–29%)
Agenesis of cerebellar vermis	Sometimes (5–29%)
Epileptic encephalopathy	Sometimes (5–29%)
Frontal cortical atrophy	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Abnormal cerebral white matter morphology	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad forehead	Very often (80–99%)
High forehead	Very often (80–99%)
Short chin	Often (30–79%)
Short nose	Often (30–79%)
Short philtrum	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Bumpy tongue	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Open mouth	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Depressed nasal bridge	Not recorded
Downturned corners of mouth	Not recorded

Abnormality of limbs

Trait	How often it is seen
Webbed 2nd and 3rd toes	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Wide-set eyes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)

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 MEF2C and how often each is seen. Find out more at hpo.jax.org.

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