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	Cât de frecvent apare
Abnormal anterior horn cell morphology	Întotdeauna
Abnormal gait	Întotdeauna
Absent speech development	Întotdeauna
Attention deficit	Întotdeauna
Colpocephaly	Întotdeauna
Delayed fine motor development	Întotdeauna
Delayed speech and language development	Întotdeauna
Fewer and broader ridges in brain	Întotdeauna
Global developmental delay	Întotdeauna
Gray matter heterotopia	Întotdeauna
Happy demeanor	Întotdeauna
Intellectual disability	Întotdeauna
IQ between 34 and 49	Întotdeauna
Lethargy	Întotdeauna
Obstructive sleep apnea	Întotdeauna
Poor eye contact	Întotdeauna
Delayed motor skills	Foarte des (80–99%)
Autism	Des (30–79%)
Brisk reflexes	Des (30–79%)
Cerebellar vermis hypoplasia	Des (30–79%)
Epilepsy	Des (30–79%)
Recurrent hand flapping	Des (30–79%)
Small cerebellum	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Chorea	Uneori (5–29%)
CNS hypomyelination	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Hypoplasia of the olfactory bulb	Uneori (5–29%)
Simplified gyral pattern	Uneori (5–29%)
Small hippocampus	Uneori (5–29%)
Thin corpus callosum	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Small forehead	Întotdeauna
Small head present at birth	Întotdeauna
Upward slanting of the opening between the eyelids	Întotdeauna
Abnormally small head	Des (30–79%)
High palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long face	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Receding chin	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Asymmetric pupil sizes	Întotdeauna
Congenital drooping upper eyelid	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Deeply set eye	Des (30–79%)
Farsightedness	Des (30–79%)
Bulging eye	Uneori (5–29%)
Cerebral visual impairment	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Optic nerve hypoplasia	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Dropped arches	Întotdeauna
Ulnar deviation of the hand	Întotdeauna
High-arched foot	Des (30–79%)
Overlapping toe	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Permanent flexion of the finger	Uneori (5–29%)
Talipes	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Double-Jointed	Întotdeauna
EMG: neuropathic changes	Întotdeauna
Fiber type grouping	Întotdeauna
Generalized decreased muscle tone	Întotdeauna
Low muscle tone	Întotdeauna
Type 1 muscle fiber predominance	Întotdeauna

Abnormality of the digestive system

Trait	Cât de frecvent apare
Gastrostomy tube feeding in infancy	Întotdeauna
Nasogastric tube feeding	Întotdeauna
Constipation	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Large earlobe	Întotdeauna
Large ears	Des (30–79%)
Simple ear	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Small for gestational age	Des (30–79%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Induced vaginal delivery	Întotdeauna
Low levels of amniotic fluid	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Mobitz I atrioventricular block	Întotdeauna
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Apneic episodes in infancy	Întotdeauna
Aspiration	Întotdeauna

Abnormality of the breast

Trait	Cât de frecvent apare
Wide-spaced nipples	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Duplicated collecting system	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
High urine protein levels	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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