Traits

Traits linked to KMT5B

lysine methyltransferase 5B

The Human Phenotype Ontology links 34 traits to KMT5B, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Autism spectrum disorder	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Difficulty falling asleep	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Febrile seizure outside the age of 3 months to 6 years	Sometimes (5–29%)
Fixated interests	Sometimes (5–29%)
Recurrent hand flapping	Sometimes (5–29%)
Tic disorder	Sometimes (5–29%)
Use of another person's body to communicate	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Delayed speech and language development	Not recorded
Global developmental delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Limited hair on end of eyebrow	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Wide nasal base	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Sometimes (5–29%)
Chronic diarrhea	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Poor suck	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Sometimes (5–29%)
Long foot	Sometimes (5–29%)
Long toe	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)
Unilateral cryptorchidism	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Dilation of Virchow-Robin spaces	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 KMT5B and how often each is seen. Find out more at hpo.jax.org.

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