Traits

Traits linked to KDM2B

lysine demethylase 2B

The Human Phenotype Ontology links 133 traits to KDM2B, 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
Abnormally large tongue	Always
Asymmetry of the posterior head	Always
Bifid uvula	Always
Big calvaria	Always
Crease in skin under the eye	Always
Downward slanting of the opening between the eyelids	Always
Flat back of skull	Always
Midface retrusion	Always
Prominent nasal tip	Always
Unopened tear duct	Always
Wide nose	Always
Receding chin	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Drooping lower lip	Sometimes (5–29%)
Exaggerated cupid's bow	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Open mouth	Sometimes (5–29%)
Posterior fossa cyst	Sometimes (5–29%)
Round face	Sometimes (5–29%)
Short opening between the eyelids	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
Absent speech development	Always
Delayed ability to sit	Always
Delayed fine motor development	Always
Delayed motor skills	Always
IQ between 34 and 49	Always
Repetitive movements	Always
Skin-picking	Always
Toe walking	Always
Delayed ability to walk	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Motor delay	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Extra-axial cerebrospinal fluid accumulation	Often (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Often (30–79%)
Intellectual disability	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Mild global developmental delay	Often (30–79%)
Moderate global developmental delay	Often (30–79%)
Attention deficit	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Severe global developmental delay	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Clubbed toes	Always
Curvature of digit	Always
Dropped arches	Always
Extra toe attached near the little toe	Always
Gap between 1st and 2nd toes	Always
Knock knees	Always
Lower limb hypertonia	Always
Lower limb muscle weakness	Always
More than five fingers or toes on hands or feet	Always
Prominent fingertip pads	Always
Talipes calcaneovalgus	Always
Tapered finger	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged heart	Always
Muscular ventricular septal defect	Always
Secundum atrial septal defect	Always
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Aortic valve has two leaflets rather than three	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Right ventricular dilatation	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Always
Close sighted	Always
Cross-eyed	Always
Duane anomaly	Always
Enlarged cornea	Always
Notched pupil	Always
Outward facing eye ball	Always
Abnormally close eyes	Sometimes (5–29%)
Absence of eyeballs	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Anteverted ears	Always
Ears rotated toward back of head	Always
Low-set ears	Always
Prominent antihelix	Always
Sensorineural hearing impairment	Always
Simple ear	Always
Absent crus of helix	Sometimes (5–29%)
Overfolded ears	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Always
Hunched back	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Joint contracture	Always
Pigeon chest	Always
Scoliosis	Always
Spasticity and rigidity of muscles	Always
Low muscle tone	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Anteriorly placed anus	Always
Constipation	Always
Inguinal hernia	Always
Poor suck	Always
Umbilical hernia	Always
Feeding difficulties	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Always
Cystic kidney disease	Always
Unilateral cryptorchidism	Always
Absent kidney on one side	Often (30–79%)
Renal cortical cysts	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
General overgrowth	Always
Short stature	Often (30–79%)
Small for gestational age	Sometimes (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Always

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always

Abnormality of the respiratory system

Trait	How often it is seen
Softening of voice box tissue	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 KDM2B and how often each is seen. Find out more at hpo.jax.org.

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