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	Cât de frecvent apare
Relatively large head	Întotdeauna
Downward slanting of the opening between the eyelids	Des (30–79%)
Full lips	Des (30–79%)
Narrow face	Des (30–79%)
Broad forehead	Uneori (5–29%)
Broad philtrum	Uneori (5–29%)
Bulbous nose	Uneori (5–29%)
Deep philtrum	Uneori (5–29%)
Eye folds	Uneori (5–29%)
High forehead	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Prominent nasal tip	Uneori (5–29%)
Prominent nose	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Slender nose	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Corners of eye widely separated	Rar (1–4%)
Hooded upper eyelid	Rar (1–4%)
Long eyelashes	Rar (1–4%)
Monobrow	Rar (1–4%)
Short opening between the eyelids	Rar (1–4%)
Sparse eyebrow	Rar (1–4%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Age-inappropriate oppositional behavior	Întotdeauna
Aggressive behavior	Întotdeauna
Agitation	Întotdeauna
Anxiety	Întotdeauna
Attention deficit	Întotdeauna
Brisk reflexes	Întotdeauna
Delayed speech and language development	Întotdeauna
Intellectual disability	Întotdeauna
Repetitive movements	Întotdeauna
Weakness of one side of body	Întotdeauna
Autism spectrum disorder	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Cognitive regression	Des (30–79%)
Difficulty staying or falling asleep	Des (30–79%)
EEG abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Motor delay	Des (30–79%)
Pauses in breathing while sleeping	Des (30–79%)
Difficulty sleeping	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Deeply set eye	Des (30–79%)
Close sighted	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Abnormally small eyeball	Rar (1–4%)
Astigmatism	Rar (1–4%)
Drooping upper eyelid	Rar (1–4%)
Farsightedness	Rar (1–4%)
Stellate iris	Rar (1–4%)

Abnormality of the ear

Trait	Cât de frecvent apare
Abnormal helix morphology	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Large ears	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Overfolded ears	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Thickened helices	Uneori (5–29%)
Hearing impairment	Rar (1–4%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Hypermobility of all joints	Întotdeauna
Low muscle tone	Întotdeauna
Double-Jointed	Uneori (5–29%)
Thoracic scoliosis	Uneori (5–29%)
Abnormal formation of the hip	Rar (1–4%)
Hunched back	Rar (1–4%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Acid reflux	Rar (1–4%)
Birth defect in which part of esophagus did not develop	Rar (1–4%)
Chronic constipation	Rar (1–4%)
Episodic vomiting	Rar (1–4%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Glanular hypospadias	Întotdeauna
Hypospadias	Uneori (5–29%)
Phimosis	Rar (1–4%)

Abnormality of limbs

Trait	Cât de frecvent apare
Broad big toe	Rar (1–4%)
Webbed fingers or toes	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Bloody nose	Întotdeauna

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Underactive thyroid	Întotdeauna

Abnormality of the integument

Trait	Cât de frecvent apare
Excessive hair growth	Întotdeauna

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
High blood calcium levels	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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