Traits

Traits linked to KMT2D

lysine methyltransferase 2D

The Human Phenotype Ontology links 242 traits to KMT2D, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Blockage of the rear opening of the nasal cavity	Aina
Blocked tear duct	Aina
Corners of eye widely separated	Aina
Decreased volume of lip	Aina
Deformity of the skull	Aina
Dimple chin	Aina
Downward slanting of the opening between the eyelids	Aina
Failure of development of more than six teeth	Aina
Full lower lip	Aina
High, narrow palate	Aina
Limited hair on end of eyebrow	Aina
Midface retrusion	Aina
Nasal tip, upturned	Aina
Receding chin	Aina
Short nose	Aina
Smooth philtrum	Aina
Tented mouth	Aina
Wide nose	Aina
Broad opening between the eyelids	Hyvin usein (80–99%)
Eversion of lateral third of lower eyelids	Hyvin usein (80–99%)
High palate	Hyvin usein (80–99%)
Highly arched eyebrow	Hyvin usein (80–99%)
Long eyelashes	Hyvin usein (80–99%)
Short columella	Hyvin usein (80–99%)
Wide nasal bridge	Hyvin usein (80–99%)
Abnormal dentition	Usein (30–79%)
Abnormality of dental shape	Usein (30–79%)
Abnormally small head	Usein (30–79%)
Bifid uvula	Usein (30–79%)
Bilateral blockage of the rear opening of the nasal cavity	Usein (30–79%)
Branchial sinus	Usein (30–79%)
Central cleft upper lip	Usein (30–79%)
Cleft lip	Usein (30–79%)
Cleft of the mouth	Usein (30–79%)
Cleft palate	Usein (30–79%)
Decreased size of tooth	Usein (30–79%)
Delayed loss of baby teeth	Usein (30–79%)
Depressed nasal bridge	Usein (30–79%)
Depressed nasal tip	Usein (30–79%)
Failure of development of between one and six teeth	Usein (30–79%)
Flat nose	Usein (30–79%)
High forehead	Usein (30–79%)
Little lower jaw	Usein (30–79%)
Pit in front of the ear	Usein (30–79%)
Proboscis	Usein (30–79%)
Sparse eyebrow	Usein (30–79%)
Thin red part of the upper lip	Usein (30–79%)
Underdeveloped tissue around nostril	Usein (30–79%)
Widely spaced teeth	Usein (30–79%)
Absent tear duct	Joskus (5–29%)
Bad bite	Joskus (5–29%)
Bell's palsy	Joskus (5–29%)
Born with teeth	Joskus (5–29%)
Branchial cyst	Joskus (5–29%)
Broad philtrum	Joskus (5–29%)
Bulbous nose	Joskus (5–29%)
Dental cavities	Joskus (5–29%)
Downturned corners of mouth	Joskus (5–29%)
Eye folds	Joskus (5–29%)
Eyelids stay open	Joskus (5–29%)
Facial asymmetry	Joskus (5–29%)
Lip pit	Joskus (5–29%)
Long, narrow head	Joskus (5–29%)
Low hairline at back of neck	Joskus (5–29%)
Low hanging columella	Joskus (5–29%)
Narrow face	Joskus (5–29%)
Narrowing of the rear opening of the nasal cavity	Joskus (5–29%)
Prominent forehead	Joskus (5–29%)
Skin tag in front of the ear	Joskus (5–29%)
Tongue tied	Joskus (5–29%)
Prominent eyelashes	Ei kirjattu

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Large earlobe	Aina
Prominent ear	Aina
Sensorineural hearing impairment	Aina
Small ears	Aina
Abnormality of the outer ear	Hyvin usein (80–99%)
Large ears	Hyvin usein (80–99%)
Aplasia of the semicircular canal	Usein (30–79%)
Chronic infections of the middle ear	Usein (30–79%)
Conductive deafness	Usein (30–79%)
Cupped ear	Usein (30–79%)
Hearing impairment	Usein (30–79%)
Low-set ears	Usein (30–79%)
Recurrent middle ear infection	Usein (30–79%)
Absent ear canal	Joskus (5–29%)
Bilateral conductive hearing impairment	Joskus (5–29%)
Cholesteatoma	Joskus (5–29%)
Ears rotated toward back of head	Joskus (5–29%)
Mixed hearing impairment	Joskus (5–29%)
Overfolded ears	Joskus (5–29%)
Progressive sensorineural hearing impairment	Joskus (5–29%)
Severe sensorineural hearing impairment	Joskus (5–29%)

Abnormality of the nervous system

Trait	Kuinka usein sitä esiintyy
Bilateral tonic-clonic seizure with focal onset	Aina
Difficulty articulating speech	Aina
Focal impaired awareness seizure	Aina
Lateral ventricle dilatation	Aina
Lobar holoprosencephaly	Aina
Delayed speech and language development	Hyvin usein (80–99%)
Global developmental delay	Hyvin usein (80–99%)
Intellectual disability	Hyvin usein (80–99%)
Neurodevelopmental delay	Hyvin usein (80–99%)
Alobar holoprosencephaly	Usein (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Usein (30–79%)
Intellectual disability, mild	Usein (30–79%)
Motor delay	Usein (30–79%)
Too much cerebrospinal fluid in the brain	Usein (30–79%)
Ventriculomegaly	Usein (30–79%)
Autism spectrum disorder	Joskus (5–29%)
Communication delay	Joskus (5–29%)
EEG abnormality	Joskus (5–29%)
Epilepsy	Joskus (5–29%)

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Bilateral renal hypoplasia	Aina
Renal failure	Aina
Undescended testes	Aina
Ureteropelvic junction obstruction	Aina
Urinary tract abnormalities	Usein (30–79%)
Abnormal kidney location	Joskus (5–29%)
Abnormal localisation of kidneys	Joskus (5–29%)
Absent/small kidney	Joskus (5–29%)
Crossed fused renal ectopia	Joskus (5–29%)
Double ureter	Joskus (5–29%)
Duplicated collecting system	Joskus (5–29%)
Hydrocele testis	Joskus (5–29%)
Hydronephrosis	Joskus (5–29%)
Hypospadias	Joskus (5–29%)
Multicystic kidney dysplasia	Joskus (5–29%)
Underdeveloped penis	Joskus (5–29%)
Short penis	Ei kirjattu

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Abnormal cardiac septum morphology	Usein (30–79%)
Abnormality of the heart	Usein (30–79%)
An opening in the wall separating the top two chambers of the heart	Usein (30–79%)
Increased blood pressure in blood vessels of lungs	Usein (30–79%)
Narrowing of aorta	Usein (30–79%)
Absent thymus	Joskus (5–29%)
Aortic valve has two leaflets rather than three	Joskus (5–29%)
Hole in heart wall separating two lower heart chambers	Joskus (5–29%)
Increased spleen size	Joskus (5–29%)
Patent ductus arteriosus	Joskus (5–29%)
Patent foramen ovale	Joskus (5–29%)
Right ventricular hypertrophy	Joskus (5–29%)
Interrupted aortic arch	Harvinainen (1–4 %)
Narrowing of aortic valve	Harvinainen (1–4 %)
Scimitar anomaly	Harvinainen (1–4 %)
Underdeveloped left heart	Harvinainen (1–4 %)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Abnormally close eyes	Aina
Drooping of both upper eyelids	Aina
Blue outer white part of eyeball	Usein (30–79%)
Cross-eyed	Usein (30–79%)
Drooping upper eyelid	Usein (30–79%)
Marcus Gunn jaw winking synkinesis	Usein (30–79%)
Peters anomaly	Usein (30–79%)
Abnormally small eyeball	Joskus (5–29%)
Cat eye	Joskus (5–29%)
Cornea of eye less than 10mm in diameter	Joskus (5–29%)
Involuntary, rapid, rhythmic eye movements	Joskus (5–29%)
Lazy eye	Joskus (5–29%)
Notched pupil	Joskus (5–29%)
Optic disc coloboma	Joskus (5–29%)
Wide-set eyes	Joskus (5–29%)
Optic nerve hypoplasia	Harvinainen (1–4 %)

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Curvature of finger	Aina
Short 5th finger	Aina
Short fingers or toes	Aina
Short middle bone of finger	Hyvin usein (80–99%)
Curvature of little finger	Usein (30–79%)
Prominent fingertip pads	Usein (30–79%)
Single transverse palmar crease	Usein (30–79%)
Broad big toe	Joskus (5–29%)
Curvature of digit	Joskus (5–29%)
Dislocated hip since birth	Joskus (5–29%)
Hip dislocation	Joskus (5–29%)
Small hand	Joskus (5–29%)

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Anteriorly placed anus	Aina
Feeding difficulties in infancy	Hyvin usein (80–99%)
Feeding difficulties	Usein (30–79%)
Absent anus	Joskus (5–29%)
Acid reflux	Joskus (5–29%)
Extra kidney	Joskus (5–29%)
Prolonged yellowing of skin in newborn	Joskus (5–29%)
Anorectal anomaly	Harvinainen (1–4 %)
Anoperineal fistula	Ei kirjattu
Intestinal malrotation	Ei kirjattu
Malabsorption	Ei kirjattu
Narrowing of anal opening	Ei kirjattu

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Abnormal formation of the hip	Aina
Butterfly vertebrae	Aina
Thoracic scoliosis	Aina
Abnormal vertebral body morphology	Hyvin usein (80–99%)
Missing part of vertebrae	Hyvin usein (80–99%)
Vertebral clefting	Hyvin usein (80–99%)
Decreased muscle tone in infant	Usein (30–79%)
Double-Jointed	Usein (30–79%)
Joint dislocation	Usein (30–79%)
Low muscle tone	Usein (30–79%)
Scoliosis	Usein (30–79%)
Congenital diaphragmatic hernia	Joskus (5–29%)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Abnormal fingerprints	Hyvin usein (80–99%)
Spinal dimple	Usein (30–79%)
Excessive hair growth	Joskus (5–29%)
Poor nail formation	Joskus (5–29%)
Small nail	Joskus (5–29%)
Sparse hair	Joskus (5–29%)
Pilomatrixoma	Harvinainen (1–4 %)
Birthmark	Ei kirjattu
Excessive hairiness	Ei kirjattu

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Decreased parathyroid hormone secretion	Aina
Decreased response to growth hormone stimulation test	Aina
Underactive thyroid	Aina
Premature breast development	Usein (30–79%)
Underactive thyroid gland from birth	Usein (30–79%)
Early onset of puberty	Joskus (5–29%)
Reduced circulating growth hormone concentration	Joskus (5–29%)
Small thyroid gland	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Growth delay	Aina
Obesity	Aina
Prenatal growth deficiency	Aina
Growth delay as children	Hyvin usein (80–99%)
Severe short stature	Hyvin usein (80–99%)
Absent pubertal growth spurt	Usein (30–79%)
Faltering weight	Usein (30–79%)
Short stature	Usein (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Decreased memory B cell proportion	Hyvin usein (80–99%)
Decreased CD4+ memory T cell proportion	Usein (30–79%)
Autoimmune thrombocytopenia	Ei kirjattu
Hemolytic anemia	Ei kirjattu

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Unusual bronchiolitis	Aina
Recurrent infections	Usein (30–79%)
Recurrent respiratory infections	Joskus (5–29%)
Recurrent aspiration pneumonia	Ei kirjattu

Abnormal cellular phenotype

Trait	Kuinka usein sitä esiintyy
Decreased circulating IgA concentration	Usein (30–79%)
Decreased circulating IgG2 concentration	Joskus (5–29%)
Decreased circulating total IgG concentration	Joskus (5–29%)

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Low blood sugar	Joskus (5–29%)
Unconjugated hyperbilirubinemia	Joskus (5–29%)
Hyperinsulinemic hypoglycemia	Harvinainen (1–4 %)

Abnormality of prenatal development or birth

Trait	Kuinka usein sitä esiintyy
High levels of amniotic fluid	Usein (30–79%)
Echogenic fetal bowel	Joskus (5–29%)

Abnormality of the breast

Trait	Kuinka usein sitä esiintyy
Absent nipple	Usein (30–79%)
Small nipples	Usein (30–79%)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Subpleural honeycombing	Aina
Type II pneumocyte hyperplasia	Aina

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
Weak cry	Aina

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

The Human Phenotype Ontology, release 2026-09-01: the traits linked to KMT2D and how often each is seen. Find out more at hpo.jax.org.

Yksi testi. Vastauksia koko elämäksi.

Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa

Tilaa Genome Test