Kjennetegn

Kjennetegn knyttet til KMT2D

lysine methyltransferase 2D

Human Phenotype Ontology knytter 242 kjennetegn til KMT2D, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of head or neck

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

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Large earlobe	Alltid
Prominent ear	Alltid
Sensorineural hearing impairment	Alltid
Small ears	Alltid
Abnormality of the outer ear	Svært ofte (80–99 %)
Large ears	Svært ofte (80–99 %)
Aplasia of the semicircular canal	Ofte (30–79 %)
Chronic infections of the middle ear	Ofte (30–79 %)
Conductive deafness	Ofte (30–79 %)
Cupped ear	Ofte (30–79 %)
Hearing impairment	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)
Recurrent middle ear infection	Ofte (30–79 %)
Absent ear canal	Noen ganger (5–29 %)
Bilateral conductive hearing impairment	Noen ganger (5–29 %)
Cholesteatoma	Noen ganger (5–29 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Mixed hearing impairment	Noen ganger (5–29 %)
Overfolded ears	Noen ganger (5–29 %)
Progressive sensorineural hearing impairment	Noen ganger (5–29 %)
Severe sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Bilateral tonic-clonic seizure with focal onset	Alltid
Difficulty articulating speech	Alltid
Focal impaired awareness seizure	Alltid
Lateral ventricle dilatation	Alltid
Lobar holoprosencephaly	Alltid
Delayed speech and language development	Svært ofte (80–99 %)
Global developmental delay	Svært ofte (80–99 %)
Intellectual disability	Svært ofte (80–99 %)
Neurodevelopmental delay	Svært ofte (80–99 %)
Alobar holoprosencephaly	Ofte (30–79 %)
Decrease in size of the outer layer of the brain due to loss of brain cells	Ofte (30–79 %)
Intellectual disability, mild	Ofte (30–79 %)
Motor delay	Ofte (30–79 %)
Too much cerebrospinal fluid in the brain	Ofte (30–79 %)
Ventriculomegaly	Ofte (30–79 %)
Autism spectrum disorder	Noen ganger (5–29 %)
Communication delay	Noen ganger (5–29 %)
EEG abnormality	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Bilateral renal hypoplasia	Alltid
Renal failure	Alltid
Undescended testes	Alltid
Ureteropelvic junction obstruction	Alltid
Urinary tract abnormalities	Ofte (30–79 %)
Abnormal kidney location	Noen ganger (5–29 %)
Abnormal localisation of kidneys	Noen ganger (5–29 %)
Absent/small kidney	Noen ganger (5–29 %)
Crossed fused renal ectopia	Noen ganger (5–29 %)
Double ureter	Noen ganger (5–29 %)
Duplicated collecting system	Noen ganger (5–29 %)
Hydrocele testis	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Multicystic kidney dysplasia	Noen ganger (5–29 %)
Underdeveloped penis	Noen ganger (5–29 %)
Short penis	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormal cardiac septum morphology	Ofte (30–79 %)
Abnormality of the heart	Ofte (30–79 %)
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Increased blood pressure in blood vessels of lungs	Ofte (30–79 %)
Narrowing of aorta	Ofte (30–79 %)
Absent thymus	Noen ganger (5–29 %)
Aortic valve has two leaflets rather than three	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Increased spleen size	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)
Patent foramen ovale	Noen ganger (5–29 %)
Right ventricular hypertrophy	Noen ganger (5–29 %)
Interrupted aortic arch	Sjelden (1–4%)
Narrowing of aortic valve	Sjelden (1–4%)
Scimitar anomaly	Sjelden (1–4%)
Underdeveloped left heart	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Abnormally close eyes	Alltid
Drooping of both upper eyelids	Alltid
Blue outer white part of eyeball	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Drooping upper eyelid	Ofte (30–79 %)
Marcus Gunn jaw winking synkinesis	Ofte (30–79 %)
Peters anomaly	Ofte (30–79 %)
Abnormally small eyeball	Noen ganger (5–29 %)
Cat eye	Noen ganger (5–29 %)
Cornea of eye less than 10mm in diameter	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Lazy eye	Noen ganger (5–29 %)
Notched pupil	Noen ganger (5–29 %)
Optic disc coloboma	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)
Optic nerve hypoplasia	Sjelden (1–4%)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Curvature of finger	Alltid
Short 5th finger	Alltid
Short fingers or toes	Alltid
Short middle bone of finger	Svært ofte (80–99 %)
Curvature of little finger	Ofte (30–79 %)
Prominent fingertip pads	Ofte (30–79 %)
Single transverse palmar crease	Ofte (30–79 %)
Broad big toe	Noen ganger (5–29 %)
Curvature of digit	Noen ganger (5–29 %)
Dislocated hip since birth	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Small hand	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Anteriorly placed anus	Alltid
Feeding difficulties in infancy	Svært ofte (80–99 %)
Feeding difficulties	Ofte (30–79 %)
Absent anus	Noen ganger (5–29 %)
Acid reflux	Noen ganger (5–29 %)
Extra kidney	Noen ganger (5–29 %)
Prolonged yellowing of skin in newborn	Noen ganger (5–29 %)
Anorectal anomaly	Sjelden (1–4%)
Anoperineal fistula	Ikke registrert
Intestinal malrotation	Ikke registrert
Malabsorption	Ikke registrert
Narrowing of anal opening	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Abnormal formation of the hip	Alltid
Butterfly vertebrae	Alltid
Thoracic scoliosis	Alltid
Abnormal vertebral body morphology	Svært ofte (80–99 %)
Missing part of vertebrae	Svært ofte (80–99 %)
Vertebral clefting	Svært ofte (80–99 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Double-Jointed	Ofte (30–79 %)
Joint dislocation	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Congenital diaphragmatic hernia	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Abnormal fingerprints	Svært ofte (80–99 %)
Spinal dimple	Ofte (30–79 %)
Excessive hair growth	Noen ganger (5–29 %)
Poor nail formation	Noen ganger (5–29 %)
Small nail	Noen ganger (5–29 %)
Sparse hair	Noen ganger (5–29 %)
Pilomatrixoma	Sjelden (1–4%)
Birthmark	Ikke registrert
Excessive hairiness	Ikke registrert

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Decreased parathyroid hormone secretion	Alltid
Decreased response to growth hormone stimulation test	Alltid
Underactive thyroid	Alltid
Premature breast development	Ofte (30–79 %)
Underactive thyroid gland from birth	Ofte (30–79 %)
Early onset of puberty	Noen ganger (5–29 %)
Reduced circulating growth hormone concentration	Noen ganger (5–29 %)
Small thyroid gland	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Growth delay	Alltid
Obesity	Alltid
Prenatal growth deficiency	Alltid
Growth delay as children	Svært ofte (80–99 %)
Severe short stature	Svært ofte (80–99 %)
Absent pubertal growth spurt	Ofte (30–79 %)
Faltering weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Decreased memory B cell proportion	Svært ofte (80–99 %)
Decreased CD4+ memory T cell proportion	Ofte (30–79 %)
Autoimmune thrombocytopenia	Ikke registrert
Hemolytic anemia	Ikke registrert

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Unusual bronchiolitis	Alltid
Recurrent infections	Ofte (30–79 %)
Recurrent respiratory infections	Noen ganger (5–29 %)
Recurrent aspiration pneumonia	Ikke registrert

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Decreased circulating IgA concentration	Ofte (30–79 %)
Decreased circulating IgG2 concentration	Noen ganger (5–29 %)
Decreased circulating total IgG concentration	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Low blood sugar	Noen ganger (5–29 %)
Unconjugated hyperbilirubinemia	Noen ganger (5–29 %)
Hyperinsulinemic hypoglycemia	Sjelden (1–4%)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
High levels of amniotic fluid	Ofte (30–79 %)
Echogenic fetal bowel	Noen ganger (5–29 %)

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Absent nipple	Ofte (30–79 %)
Small nipples	Ofte (30–79 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Subpleural honeycombing	Alltid
Type II pneumocyte hyperplasia	Alltid

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Weak cry	Alltid

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til KMT2D og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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