Traits

Traits linked to KDM5C

lysine demethylase 5C

The Human Phenotype Ontology links 66 traits to KDM5C, 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
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability, severe	Always
More active than typical	Always
Motor delay	Always
Intellectual disability	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Epilepsy	Often (30–79%)
Increased reflexes	Often (30–79%)
Tonic seizure	Often (30–79%)
Autism	Sometimes (5–29%)
Pain insensitivity	Sometimes (5–29%)
Babinski sign	Not recorded
Low frustration tolerance	Not recorded
Overactive lower leg reflex	Not recorded
Restlessness	Not recorded
Shuffled walk	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Grooved tongue	Always
Recurrent colds	Always
Decreased size of maxilla	Very often (80–99%)
Abnormally small head	Often (30–79%)
High palate	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Gap between teeth	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Small forehead	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Decreased facial muscle tone	Not recorded

Abnormality of limbs

Trait	How often it is seen
Large hands	Always
Outward turned elbows	Always
Short foot	Always
Club feet	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Short palm	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)
Lower limb hypertonia	Not recorded
Short fingers or toes	Not recorded
Short outermost finger bone	Not recorded
Talipes calcaneovarus	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Always
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Distal lower limb amyotrophy	Not recorded
Progressive spastic paraplegia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Close sighted	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Very often (80–99%)
Decreased testicular size	Sometimes (5–29%)
Short penis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Faltering weight	Always
Short stature	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Always
Prominent ear	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Patchy baldness	Very often (80–99%)
Multiple birthmarks	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Always

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 KDM5C and how often each is seen. Find out more at hpo.jax.org.

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