Traits

Traits linked to KDM4B

lysine demethylase 4B

The Human Phenotype Ontology links 45 traits to KDM4B, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Decreased facial muscle tone	Often (30–79%)
Short philtrum	Often (30–79%)
Bulbous nose	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Full upper lip	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Low hairline at back of neck	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow eyelid opening	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent metopic ridge	Sometimes (5–29%)
Round face	Sometimes (5–29%)
Tall shaped head	Sometimes (5–29%)
Tented mouth	Sometimes (5–29%)
Thin eyebrow	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Aggressive behavior	Often (30–79%)
Attention deficit	Often (30–79%)
Delayed fine motor development	Often (30–79%)
Delayed motor skills	Often (30–79%)
Dysgenesis of the hippocampus	Often (30–79%)
Epilepsy	Often (30–79%)
Ataxia	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Noncommunicating hydrocephalus	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Often (30–79%)
Short foot	Sometimes (5–29%)
Short palm	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)

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 KDM4B and how often each is seen. Find out more at hpo.jax.org.

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