Traits

Traits linked to KDM5A

lysine demethylase 5A

The Human Phenotype Ontology links 34 traits to KDM5A, 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
Autism spectrum disorder	Always
Intellectual disability	Always
Absent speech development	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Echoing another person's speech	Sometimes (5–29%)
Hippocampal atrophy	Sometimes (5–29%)
Parietal cortical atrophy	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Posterior embryotoxon	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bunion	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Webbed 2nd and 3rd toes	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	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Funnel chest	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	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 KDM5A and how often each is seen. Find out more at hpo.jax.org.

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