Egenskaber

Egenskaber knyttet til KMT2D

lysine methyltransferase 2D

Human Phenotype Ontology knytter 242 egenskaber til KMT2D, opdelt efter kropssystem: træk, der ses hos personer med en af genets sjældne sygdomme.

Abnormality of head or neck

Egenskab	Hvor ofte det ses
Blockage of the rear opening of the nasal cavity	Altid
Blocked tear duct	Altid
Corners of eye widely separated	Altid
Decreased volume of lip	Altid
Deformity of the skull	Altid
Dimple chin	Altid
Downward slanting of the opening between the eyelids	Altid
Failure of development of more than six teeth	Altid
Full lower lip	Altid
High, narrow palate	Altid
Limited hair on end of eyebrow	Altid
Midface retrusion	Altid
Nasal tip, upturned	Altid
Receding chin	Altid
Short nose	Altid
Smooth philtrum	Altid
Tented mouth	Altid
Wide nose	Altid
Broad opening between the eyelids	Meget ofte (80–99 %)
Eversion of lateral third of lower eyelids	Meget ofte (80–99 %)
High palate	Meget ofte (80–99 %)
Highly arched eyebrow	Meget ofte (80–99 %)
Long eyelashes	Meget ofte (80–99 %)
Short columella	Meget ofte (80–99 %)
Wide nasal bridge	Meget 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	Nogle gange (5–29 %)
Bad bite	Nogle gange (5–29 %)
Bell's palsy	Nogle gange (5–29 %)
Born with teeth	Nogle gange (5–29 %)
Branchial cyst	Nogle gange (5–29 %)
Broad philtrum	Nogle gange (5–29 %)
Bulbous nose	Nogle gange (5–29 %)
Dental cavities	Nogle gange (5–29 %)
Downturned corners of mouth	Nogle gange (5–29 %)
Eye folds	Nogle gange (5–29 %)
Eyelids stay open	Nogle gange (5–29 %)
Facial asymmetry	Nogle gange (5–29 %)
Lip pit	Nogle gange (5–29 %)
Long, narrow head	Nogle gange (5–29 %)
Low hairline at back of neck	Nogle gange (5–29 %)
Low hanging columella	Nogle gange (5–29 %)
Narrow face	Nogle gange (5–29 %)
Narrowing of the rear opening of the nasal cavity	Nogle gange (5–29 %)
Prominent forehead	Nogle gange (5–29 %)
Skin tag in front of the ear	Nogle gange (5–29 %)
Tongue tied	Nogle gange (5–29 %)
Prominent eyelashes	Ikke registreret

Abnormality of the ear

Egenskab	Hvor ofte det ses
Large earlobe	Altid
Prominent ear	Altid
Sensorineural hearing impairment	Altid
Small ears	Altid
Abnormality of the outer ear	Meget ofte (80–99 %)
Large ears	Meget 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	Nogle gange (5–29 %)
Bilateral conductive hearing impairment	Nogle gange (5–29 %)
Cholesteatoma	Nogle gange (5–29 %)
Ears rotated toward back of head	Nogle gange (5–29 %)
Mixed hearing impairment	Nogle gange (5–29 %)
Overfolded ears	Nogle gange (5–29 %)
Progressive sensorineural hearing impairment	Nogle gange (5–29 %)
Severe sensorineural hearing impairment	Nogle gange (5–29 %)

Abnormality of the nervous system

Egenskab	Hvor ofte det ses
Bilateral tonic-clonic seizure with focal onset	Altid
Difficulty articulating speech	Altid
Focal impaired awareness seizure	Altid
Lateral ventricle dilatation	Altid
Lobar holoprosencephaly	Altid
Delayed speech and language development	Meget ofte (80–99 %)
Global developmental delay	Meget ofte (80–99 %)
Intellectual disability	Meget ofte (80–99 %)
Neurodevelopmental delay	Meget 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	Nogle gange (5–29 %)
Communication delay	Nogle gange (5–29 %)
EEG abnormality	Nogle gange (5–29 %)
Epilepsy	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Egenskab	Hvor ofte det ses
Bilateral renal hypoplasia	Altid
Renal failure	Altid
Undescended testes	Altid
Ureteropelvic junction obstruction	Altid
Urinary tract abnormalities	Ofte (30–79 %)
Abnormal kidney location	Nogle gange (5–29 %)
Abnormal localisation of kidneys	Nogle gange (5–29 %)
Absent/small kidney	Nogle gange (5–29 %)
Crossed fused renal ectopia	Nogle gange (5–29 %)
Double ureter	Nogle gange (5–29 %)
Duplicated collecting system	Nogle gange (5–29 %)
Hydrocele testis	Nogle gange (5–29 %)
Hydronephrosis	Nogle gange (5–29 %)
Hypospadias	Nogle gange (5–29 %)
Multicystic kidney dysplasia	Nogle gange (5–29 %)
Underdeveloped penis	Nogle gange (5–29 %)
Short penis	Ikke registreret

Abnormality of the cardiovascular system

Egenskab	Hvor ofte det ses
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	Nogle gange (5–29 %)
Aortic valve has two leaflets rather than three	Nogle gange (5–29 %)
Hole in heart wall separating two lower heart chambers	Nogle gange (5–29 %)
Increased spleen size	Nogle gange (5–29 %)
Patent ductus arteriosus	Nogle gange (5–29 %)
Patent foramen ovale	Nogle gange (5–29 %)
Right ventricular hypertrophy	Nogle gange (5–29 %)
Interrupted aortic arch	Sjældent (1–4%)
Narrowing of aortic valve	Sjældent (1–4%)
Scimitar anomaly	Sjældent (1–4%)
Underdeveloped left heart	Sjældent (1–4%)

Abnormality of the eye

Egenskab	Hvor ofte det ses
Abnormally close eyes	Altid
Drooping of both upper eyelids	Altid
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	Nogle gange (5–29 %)
Cat eye	Nogle gange (5–29 %)
Cornea of eye less than 10mm in diameter	Nogle gange (5–29 %)
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)
Lazy eye	Nogle gange (5–29 %)
Notched pupil	Nogle gange (5–29 %)
Optic disc coloboma	Nogle gange (5–29 %)
Wide-set eyes	Nogle gange (5–29 %)
Optic nerve hypoplasia	Sjældent (1–4%)

Abnormality of limbs

Egenskab	Hvor ofte det ses
Curvature of finger	Altid
Short 5th finger	Altid
Short fingers or toes	Altid
Short middle bone of finger	Meget 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	Nogle gange (5–29 %)
Curvature of digit	Nogle gange (5–29 %)
Dislocated hip since birth	Nogle gange (5–29 %)
Hip dislocation	Nogle gange (5–29 %)
Small hand	Nogle gange (5–29 %)

Abnormality of the digestive system

Egenskab	Hvor ofte det ses
Anteriorly placed anus	Altid
Feeding difficulties in infancy	Meget ofte (80–99 %)
Feeding difficulties	Ofte (30–79 %)
Absent anus	Nogle gange (5–29 %)
Acid reflux	Nogle gange (5–29 %)
Extra kidney	Nogle gange (5–29 %)
Prolonged yellowing of skin in newborn	Nogle gange (5–29 %)
Anorectal anomaly	Sjældent (1–4%)
Anoperineal fistula	Ikke registreret
Intestinal malrotation	Ikke registreret
Malabsorption	Ikke registreret
Narrowing of anal opening	Ikke registreret

Abnormality of the musculoskeletal system

Egenskab	Hvor ofte det ses
Abnormal formation of the hip	Altid
Butterfly vertebrae	Altid
Thoracic scoliosis	Altid
Abnormal vertebral body morphology	Meget ofte (80–99 %)
Missing part of vertebrae	Meget ofte (80–99 %)
Vertebral clefting	Meget 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	Nogle gange (5–29 %)

Abnormality of the integument

Egenskab	Hvor ofte det ses
Abnormal fingerprints	Meget ofte (80–99 %)
Spinal dimple	Ofte (30–79 %)
Excessive hair growth	Nogle gange (5–29 %)
Poor nail formation	Nogle gange (5–29 %)
Small nail	Nogle gange (5–29 %)
Sparse hair	Nogle gange (5–29 %)
Pilomatrixoma	Sjældent (1–4%)
Birthmark	Ikke registreret
Excessive hairiness	Ikke registreret

Abnormality of the endocrine system

Egenskab	Hvor ofte det ses
Decreased parathyroid hormone secretion	Altid
Decreased response to growth hormone stimulation test	Altid
Underactive thyroid	Altid
Premature breast development	Ofte (30–79 %)
Underactive thyroid gland from birth	Ofte (30–79 %)
Early onset of puberty	Nogle gange (5–29 %)
Reduced circulating growth hormone concentration	Nogle gange (5–29 %)
Small thyroid gland	Nogle gange (5–29 %)

Growth abnormality

Egenskab	Hvor ofte det ses
Growth delay	Altid
Obesity	Altid
Prenatal growth deficiency	Altid
Growth delay as children	Meget ofte (80–99 %)
Severe short stature	Meget 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

Egenskab	Hvor ofte det ses
Decreased memory B cell proportion	Meget ofte (80–99 %)
Decreased CD4+ memory T cell proportion	Ofte (30–79 %)
Autoimmune thrombocytopenia	Ikke registreret
Hemolytic anemia	Ikke registreret

Abnormality of the immune system

Egenskab	Hvor ofte det ses
Unusual bronchiolitis	Altid
Recurrent infections	Ofte (30–79 %)
Recurrent respiratory infections	Nogle gange (5–29 %)
Recurrent aspiration pneumonia	Ikke registreret

Abnormal cellular phenotype

Egenskab	Hvor ofte det ses
Decreased circulating IgA concentration	Ofte (30–79 %)
Decreased circulating IgG2 concentration	Nogle gange (5–29 %)
Decreased circulating total IgG concentration	Nogle gange (5–29 %)

Laboratory abnormality

Egenskab	Hvor ofte det ses
Low blood sugar	Nogle gange (5–29 %)
Unconjugated hyperbilirubinemia	Nogle gange (5–29 %)
Hyperinsulinemic hypoglycemia	Sjældent (1–4%)

Abnormality of prenatal development or birth

Egenskab	Hvor ofte det ses
High levels of amniotic fluid	Ofte (30–79 %)
Echogenic fetal bowel	Nogle gange (5–29 %)

Abnormality of the breast

Egenskab	Hvor ofte det ses
Absent nipple	Ofte (30–79 %)
Small nipples	Ofte (30–79 %)

Abnormality of the respiratory system

Egenskab	Hvor ofte det ses
Subpleural honeycombing	Altid
Type II pneumocyte hyperplasia	Altid

Abnormality of the voice

Egenskab	Hvor ofte det ses
Weak cry	Altid

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

Human Phenotype Ontology, version 2026-09-01: egenskaberne knyttet til KMT2D og hvor ofte hver enkelt ses. Læs mere på hpo.jax.org.

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