Traits

Traits linked to DOT1L

DOT1 like histone lysine methyltransferase

The Human Phenotype Ontology links 100 traits to DOT1L, by body system: features seen in people with one of the gene's rare conditions.

DOT1L

Abnormality of head or neck

Trait	How often it is seen
Narrowing of the rear opening of the nasal cavity	Always
Abnormally small head	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Myopathic facies	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short opening between the eyelids	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Tented mouth	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wider-than-typical soft spot of skull	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Central sleep apnea	Always
Clonic seizure	Always
Delayed ability to crawl	Always
Delayed ability to sit	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Falls	Always
Global developmental delay	Always
Infantile spasms	Always
Obstructive sleep apnea	Always
Persistent head lag	Always
Typical absence seizure	Always
Severe global developmental delay	Very often (80–99%)
Focal cortical dysplasia	Often (30–79%)
Autism	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Cortical dysplasia	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Enlarged brain	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Periventricular heterotopia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Dropping of one upper eyelid	Always
Lazy eye	Often (30–79%)
Wide-set eyes	Often (30–79%)
Anisometropia	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)
Inflammation of heart muscle	Sometimes (5–29%)
Persistent left superior vena cava	Sometimes (5–29%)
Retinal vascular tortuosity	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Chronic constipation	Always
Diarrhea	Always
Feeding difficulties	Always
Gastrostomy tube feeding in infancy	Always
Poor suck	Always

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Abnormal semicircular canal morphology	Sometimes (5–29%)
Conductive deafness	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Narrow ear canal	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Chordee	Sometimes (5–29%)
Low-grade vesicoureteral reflux	Sometimes (5–29%)
Short penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Hip joint hypermobility	Often (30–79%)
Overlapping toe	Sometimes (5–29%)
Partial hip dislocation	Sometimes (5–29%)
Short 5th finger	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Extra ribs	Sometimes (5–29%)
Increased vertebral height	Sometimes (5–29%)
Thoracic hemivertebrae	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid gland from birth	Often (30–79%)
Reduced circulating growth hormone concentration	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent aspiration pneumonia	Always
Recurrent pneumonia	Always
Eczema	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	Sometimes (5–29%)
Small fifth toenail	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cardiorespiratory arrest	Always
Softening of voice box tissue	Always

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Low blood sugar in newborn	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to DOT1L and how often each is seen. Find out more at hpo.jax.org.

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