Traits

Traits linked to WSB2

WD repeat and SOCS box containing 2

The Human Phenotype Ontology links 83 traits to WSB2, 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
Abnormal anterior horn cell morphology	Always
Abnormal gait	Always
Absent speech development	Always
Attention deficit	Always
Colpocephaly	Always
Delayed fine motor development	Always
Delayed speech and language development	Always
Fewer and broader ridges in brain	Always
Global developmental delay	Always
Gray matter heterotopia	Always
Happy demeanor	Always
Intellectual disability	Always
IQ between 34 and 49	Always
Lethargy	Always
Obstructive sleep apnea	Always
Poor eye contact	Always
Delayed motor skills	Very often (80–99%)
Autism	Often (30–79%)
Brisk reflexes	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Epilepsy	Often (30–79%)
Recurrent hand flapping	Often (30–79%)
Small cerebellum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Chorea	Sometimes (5–29%)
CNS hypomyelination	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Hypoplasia of the olfactory bulb	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Small hippocampus	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Small forehead	Always
Small head present at birth	Always
Upward slanting of the opening between the eyelids	Always
Abnormally small head	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Asymmetric pupil sizes	Always
Congenital drooping upper eyelid	Always
Involuntary, rapid, rhythmic eye movements	Always
Deeply set eye	Often (30–79%)
Farsightedness	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always
Ulnar deviation of the hand	Always
High-arched foot	Often (30–79%)
Overlapping toe	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Talipes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
EMG: neuropathic changes	Always
Fiber type grouping	Always
Generalized decreased muscle tone	Always
Low muscle tone	Always
Type 1 muscle fiber predominance	Always

Abnormality of the digestive system

Trait	How often it is seen
Gastrostomy tube feeding in infancy	Always
Nasogastric tube feeding	Always
Constipation	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large earlobe	Always
Large ears	Often (30–79%)
Simple ear	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Small for gestational age	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Induced vaginal delivery	Always
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Mobitz I atrioventricular block	Always
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apneic episodes in infancy	Always
Aspiration	Always

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Duplicated collecting system	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	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 WSB2 and how often each is seen. Find out more at hpo.jax.org.

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