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	Kui sageli seda täheldatakse
Relatively large head	Alati
Downward slanting of the opening between the eyelids	Sageli (30–79%)
Full lips	Sageli (30–79%)
Narrow face	Sageli (30–79%)
Broad forehead	Mõnikord (5–29%)
Broad philtrum	Mõnikord (5–29%)
Bulbous nose	Mõnikord (5–29%)
Deep philtrum	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
High forehead	Mõnikord (5–29%)
Long philtrum	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Prominent forehead	Mõnikord (5–29%)
Prominent nasal tip	Mõnikord (5–29%)
Prominent nose	Mõnikord (5–29%)
Short philtrum	Mõnikord (5–29%)
Slender nose	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)
Corners of eye widely separated	Harva (1–4%)
Hooded upper eyelid	Harva (1–4%)
Long eyelashes	Harva (1–4%)
Monobrow	Harva (1–4%)
Short opening between the eyelids	Harva (1–4%)
Sparse eyebrow	Harva (1–4%)

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Age-inappropriate oppositional behavior	Alati
Aggressive behavior	Alati
Agitation	Alati
Anxiety	Alati
Attention deficit	Alati
Brisk reflexes	Alati
Delayed speech and language development	Alati
Intellectual disability	Alati
Repetitive movements	Alati
Weakness of one side of body	Alati
Autism spectrum disorder	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Cognitive regression	Sageli (30–79%)
Difficulty staying or falling asleep	Sageli (30–79%)
EEG abnormality	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Pauses in breathing while sleeping	Sageli (30–79%)
Difficulty sleeping	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Deeply set eye	Sageli (30–79%)
Close sighted	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)
Abnormally small eyeball	Harva (1–4%)
Astigmatism	Harva (1–4%)
Drooping upper eyelid	Harva (1–4%)
Farsightedness	Harva (1–4%)
Stellate iris	Harva (1–4%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Abnormal helix morphology	Sageli (30–79%)
Ears rotated toward back of head	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Overfolded ears	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)
Thickened helices	Mõnikord (5–29%)
Hearing impairment	Harva (1–4%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Hypermobility of all joints	Alati
Low muscle tone	Alati
Double-Jointed	Mõnikord (5–29%)
Thoracic scoliosis	Mõnikord (5–29%)
Abnormal formation of the hip	Harva (1–4%)
Hunched back	Harva (1–4%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Acid reflux	Harva (1–4%)
Birth defect in which part of esophagus did not develop	Harva (1–4%)
Chronic constipation	Harva (1–4%)
Episodic vomiting	Harva (1–4%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Glanular hypospadias	Alati
Hypospadias	Mõnikord (5–29%)
Phimosis	Harva (1–4%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Broad big toe	Harva (1–4%)
Webbed fingers or toes	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Bloody nose	Alati

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Underactive thyroid	Alati

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Excessive hair growth	Alati

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
High blood calcium levels	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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