Traits

Traits linked to MARK2

microtubule affinity regulating kinase 2

The Human Phenotype Ontology links 80 traits to MARK2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Relatively large head	Visada
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Narrow face	Dažnai (30–79%)
Broad forehead	Kartais (5–29%)
Broad philtrum	Kartais (5–29%)
Bulbous nose	Kartais (5–29%)
Deep philtrum	Kartais (5–29%)
Eye folds	Kartais (5–29%)
High forehead	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Prominent forehead	Kartais (5–29%)
Prominent nasal tip	Kartais (5–29%)
Prominent nose	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Slender nose	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Corners of eye widely separated	Retai (1–4 %)
Hooded upper eyelid	Retai (1–4 %)
Long eyelashes	Retai (1–4 %)
Monobrow	Retai (1–4 %)
Short opening between the eyelids	Retai (1–4 %)
Sparse eyebrow	Retai (1–4 %)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Age-inappropriate oppositional behavior	Visada
Aggressive behavior	Visada
Agitation	Visada
Anxiety	Visada
Attention deficit	Visada
Brisk reflexes	Visada
Delayed speech and language development	Visada
Intellectual disability	Visada
Repetitive movements	Visada
Weakness of one side of body	Visada
Autism spectrum disorder	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Cognitive regression	Dažnai (30–79%)
Difficulty staying or falling asleep	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Pauses in breathing while sleeping	Dažnai (30–79%)
Difficulty sleeping	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Deeply set eye	Dažnai (30–79%)
Close sighted	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Abnormally small eyeball	Retai (1–4 %)
Astigmatism	Retai (1–4 %)
Drooping upper eyelid	Retai (1–4 %)
Farsightedness	Retai (1–4 %)
Stellate iris	Retai (1–4 %)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormal helix morphology	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Large ears	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Thickened helices	Kartais (5–29%)
Hearing impairment	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Hypermobility of all joints	Visada
Low muscle tone	Visada
Double-Jointed	Kartais (5–29%)
Thoracic scoliosis	Kartais (5–29%)
Abnormal formation of the hip	Retai (1–4 %)
Hunched back	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Acid reflux	Retai (1–4 %)
Birth defect in which part of esophagus did not develop	Retai (1–4 %)
Chronic constipation	Retai (1–4 %)
Episodic vomiting	Retai (1–4 %)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Glanular hypospadias	Visada
Hypospadias	Kartais (5–29%)
Phimosis	Retai (1–4 %)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Broad big toe	Retai (1–4 %)
Webbed fingers or toes	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bloody nose	Visada

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Underactive thyroid	Visada

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Excessive hair growth	Visada

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
High blood calcium levels	Visada

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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The Human Phenotype Ontology, release 2026-09-01: the traits linked to MARK2 and how often each is seen. Find out more at hpo.jax.org.

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