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

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Small forehead	Alati
Small head present at birth	Alati
Upward slanting of the opening between the eyelids	Alati
Abnormally small head	Sageli (30–79%)
High palate	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Long face	Mõnikord (5–29%)
Low frontal hairline	Mõnikord (5–29%)
Narrow forehead	Mõnikord (5–29%)
Receding chin	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Asymmetric pupil sizes	Alati
Congenital drooping upper eyelid	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Deeply set eye	Sageli (30–79%)
Farsightedness	Sageli (30–79%)
Bulging eye	Mõnikord (5–29%)
Cerebral visual impairment	Mõnikord (5–29%)
Inward turning cross eyed	Mõnikord (5–29%)
Optic nerve hypoplasia	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Dropped arches	Alati
Ulnar deviation of the hand	Alati
High-arched foot	Sageli (30–79%)
Overlapping toe	Sageli (30–79%)
Curvature of little finger	Mõnikord (5–29%)
Permanent flexion of the finger	Mõnikord (5–29%)
Talipes	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Double-Jointed	Alati
EMG: neuropathic changes	Alati
Fiber type grouping	Alati
Generalized decreased muscle tone	Alati
Low muscle tone	Alati
Type 1 muscle fiber predominance	Alati

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Gastrostomy tube feeding in infancy	Alati
Nasogastric tube feeding	Alati
Constipation	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Large earlobe	Alati
Large ears	Sageli (30–79%)
Simple ear	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Prenatal growth deficiency	Sageli (30–79%)
Small for gestational age	Sageli (30–79%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Induced vaginal delivery	Alati
Low levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Mobitz I atrioventricular block	Alati
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Apneic episodes in infancy	Alati
Aspiration	Alati

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Wide-spaced nipples	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Duplicated collecting system	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
High urine protein levels	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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