Trăsături

Trăsături asociate cu KMT2A

lysine methyltransferase 2A

Human Phenotype Ontology asociază 102 trăsături cu KMT2A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Bulbous nose	Întotdeauna
Monobrow	Întotdeauna
Depressed nasal tip	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Long eyelashes	Foarte des (80–99%)
Thick eyebrow	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Broad lateral eyebrow	Des (30–79%)
Broad nasal tip	Des (30–79%)
Broad opening between the eyelids	Des (30–79%)
Drooping brow	Des (30–79%)
Eversion of lateral third of lower eyelids	Des (30–79%)
Exaggerated cupid's bow	Des (30–79%)
Eye folds	Des (30–79%)
Facial asymmetry	Des (30–79%)
Failure of development of between one and six teeth	Des (30–79%)
High palate	Des (30–79%)
Highly arched eyebrow	Des (30–79%)
Little lower jaw	Des (30–79%)
Long philtrum	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Narrow eyelid opening	Des (30–79%)
Prominent forehead	Des (30–79%)
Round face	Des (30–79%)
Short columella	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Corners of eye widely separated	Uneori (5–29%)
Flat face	Uneori (5–29%)
High forehead	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Short nose	Uneori (5–29%)
Webbed neck	Uneori (5–29%)
Narrow opening between the eyelids	Neînregistrat
Wide nose	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Aggressive behavior	Des (30–79%)
Anxiety	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Delayed motor skills	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Epilepsy	Des (30–79%)
Low frustration tolerance	Des (30–79%)
More active than typical	Des (30–79%)
Repetitive movements	Des (30–79%)
Short attention span	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Autism	Uneori (5–29%)
Psychomotor deterioration	Uneori (5–29%)
Wide based walk	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Întotdeauna
Curvature of little finger	Foarte des (80–99%)
Abnormality of the elbow	Des (30–79%)
Contracture of the distal interphalangeal joint of the fingers	Des (30–79%)
Short 5th finger	Des (30–79%)
Tapered finger	Des (30–79%)
Webbed 2nd and 3rd toes	Des (30–79%)
Abnormality of the hand	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Disproportionately short upper portion of limb	Uneori (5–29%)
Long big toe	Uneori (5–29%)
Small hand	Uneori (5–29%)
Short finger bones	Neînregistrat
Short middle bone of finger	Neînregistrat
Short toe	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Advanced bone age	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Low muscle tone	Des (30–79%)
Absent/small ribs	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Hyperextensibility at elbow	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness over body	Întotdeauna
Generalized hypertrichosis	Întotdeauna
Prominent digit pad	Întotdeauna
Hairy elbow	Foarte des (80–99%)
Thick hair	Foarte des (80–99%)
Congenital, generalized hypertrichosis	Des (30–79%)
Spinal dimple	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Poor swallowing	Des (30–79%)
Acid reflux	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blue outer white part of eyeball	Des (30–79%)
Cross-eyed	Des (30–79%)
Wide-set eyes	Des (30–79%)
Drooping upper eyelid	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Întotdeauna
Short stature	Întotdeauna
Prenatal growth deficiency	Des (30–79%)
Faltering weight	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)
Recurrent middle ear infection	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Dilatation of renal calices	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Des (30–79%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu KMT2A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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