Traits

Traits linked to MAP2K2

mitogen-activated protein kinase kinase 2

The Human Phenotype Ontology links 169 traits to MAP2K2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Broad neck	Always
Bulbous nose	Always
Coarse facial features	Always
Eye folds	Always
Full lower lip	Always
Long face	Always
Long philtrum	Always
Narrow face	Always
Prominent brow	Always
Short nose	Always
Sparse eyebrow	Always
Abnormal eyelashes	Very often (80–99%)
Abnormality of the face	Very often (80–99%)
Absent eyebrow	Very often (80–99%)
Broad opening between the eyelids	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Flattened bony protrusion above eyes	Very often (80–99%)
Full cheeks	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Sparse or absent eyebrows	Very often (80–99%)
Webbed neck	Very often (80–99%)
Absence of scalp hair	Often (30–79%)
Big calvaria	Often (30–79%)
Cheekbone underdevelopment	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Deep philtrum	Often (30–79%)
Frontal bossing	Often (30–79%)
Full lips	Often (30–79%)
High forehead	Often (30–79%)
High palate	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Narrow forehead	Often (30–79%)
Palpebral thickening	Often (30–79%)
Prominent forehead	Often (30–79%)
Short neck	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Sparse or absent eyelashes	Often (30–79%)
Long, narrow head	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Abnormal dentition	Not recorded
Absent eyelashes	Not recorded
Bad bite	Not recorded
Corners of eye widely separated	Not recorded
Little lower jaw	Not recorded
Open bite	Not recorded
Open mouth	Not recorded
Relatively large head	Not recorded

Abnormality of the integument

Trait	How often it is seen
Curly hair	Always
Excessive sweating	Always
Few cafe-au-lait spots	Always
Liver spots	Always
Sparse hair	Always
Brittle hair	Very often (80–99%)
Dry skin	Very often (80–99%)
Excessive wrinkled skin	Very often (80–99%)
Fine hair	Very often (80–99%)
Multiple birthmarks	Very often (80–99%)
Birthmark	Often (30–79%)
Chicken skin	Often (30–79%)
Generalized hyperpigmentation	Often (30–79%)
Hyperelastic skin	Often (30–79%)
Hyperkeratosis	Often (30–79%)
Ichthyosis	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Poor fingernail formation	Often (30–79%)
Slow-growing hair	Often (30–79%)
Loose redundant skin	Sometimes (5–29%)
Numerous moles	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Decrease in size of the outer layer of the brain due to loss of brain cells	Always
Degeneration of cerebrum	Always
Intellectual disability, severe	Always
Severe global developmental delay	Always
Small cerebellum	Always
Thin corpus callosum	Always
Abnormal speech pattern	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Autism	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Motor delay	Often (30–79%)
Difficulty articulating speech	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Not recorded
Tongue thrusting	Not recorded
Underdeveloped frontal lobe	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue eyes	Always
Bulging eye	Always
Close sighted	Always
Clouding of the lens of the eye	Always
Cross-eyed	Always
Drooping upper eyelid	Always
Farsightedness	Always
Involuntary, rapid, rhythmic eye movements	Always
Optic nerve hypoplasia	Always
Abnormality of the eye	Very often (80–99%)
Abnormality of vision	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Cerebral visual impairment	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Oculomotor apraxia	Not recorded
Optic nerve dysplasia	Not recorded
Progressive loss of vision	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Always
Low muscle tone	Always
Scoliosis	Always
Wide rib cage	Always
Abdominal wall muscle weakness	Very often (80–99%)
Shield chest	Very often (80–99%)
Abnormality of the chest	Often (30–79%)
Double-Jointed	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Delayed bone maturation	Not recorded
Osteopenia	Not recorded
Pigeon chest	Not recorded
Spasticity and rigidity of muscles	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal aortic valve morphology	Always
Increased spleen size	Always
Ventricular septal hypertrophy	Always
Abnormal cardiovascular system morphology	Very often (80–99%)
Abnormal heart valve morphology	Very often (80–99%)
An opening in the wall separating the top two chambers of the heart	Very often (80–99%)
Enlarged and thickened heart muscle	Very often (80–99%)
Narrowing of pulmonic valve	Very often (80–99%)
Abnormality of the lymphatic system	Often (30–79%)
Collection of dilated blood vessels that forms mass	Often (30–79%)
Disease of the heart muscle	Often (30–79%)
Strawberry mark	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always
Thickening of the outer layer of the skin of the palms and soles	Always
Thickening of palms and soles	Very often (80–99%)
Abnormal morphology of ulna	Often (30–79%)
Deep palm line	Often (30–79%)
Outward turned elbows	Often (30–79%)
Knock knees	Sometimes (5–29%)
Finger joint hyperextensibility	Not recorded
Multiple plantar creases	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Feeding difficulties in infancy	Very often (80–99%)
Gastrostomy tube feeding in infancy	Often (30–79%)
Poor swallowing	Often (30–79%)
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Functional abnormality of the gastrointestinal tract	Sometimes (5–29%)
Acid reflux	Not recorded
Constipation	Not recorded
Vomiting	Not recorded

Abnormality of the ear

Trait	How often it is seen
Thickened helices	Always
Abnormal helix morphology	Very often (80–99%)
Ears rotated toward back of head	Very often (80–99%)
Low-set ears	Very often (80–99%)
Large earlobe	Often (30–79%)
Large ears	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Earlobe crease	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Faltering weight in infancy	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)
Premature birth	Often (30–79%)

Abnormality of the genitourinary system

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

Laboratory abnormality

Trait	How often it is seen
Heat intolerance	Always
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Prolonged bleeding time	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Always

Abnormality of the immune system

Trait	How often it is seen
Baby eczema	Not recorded

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 MAP2K2 and how often each is seen. Find out more at hpo.jax.org.

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