Traits

Traits linked to SALL4

spalt like transcription factor 4

The Human Phenotype Ontology links 149 traits to SALL4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Short thighbone	Visada
Underdeveloped inner large forearm bone	Visada
Underdeveloped outer large forearm bone	Visada
Abnormal morphology of the radius	Labai dažnai (80–99%)
Abnormality of the thumb	Labai dažnai (80–99%)
Aplasia/Hypoplasia of the radius	Labai dažnai (80–99%)
Short outermost bone of the thumb	Labai dažnai (80–99%)
Short thumb	Labai dažnai (80–99%)
Small thenar eminence	Labai dažnai (80–99%)
Absent thumb	Dažnai (30–79%)
Broad bone of big toe	Dažnai (30–79%)
Extra thumb	Dažnai (30–79%)
Finger-like thumb	Dažnai (30–79%)
Fused forearm bones	Dažnai (30–79%)
Fused wrist bones	Dažnai (30–79%)
Fusion of wrist bones	Dažnai (30–79%)
Gap between 1st and 2nd toes	Dažnai (30–79%)
Radial ray deficiency	Dažnai (30–79%)
Short big toe	Dažnai (30–79%)
Upper limb undergrowth	Dažnai (30–79%)
Absent/small thumb	Kartais (5–29%)
Club feet	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Fused toes	Kartais (5–29%)
Missing outer large bone of forearm	Kartais (5–29%)
Preaxial polydactyly	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Short humerus	Kartais (5–29%)
Small pec muscle	Kartais (5–29%)
Talipes	Kartais (5–29%)
Absent long bone of hand	Neužfiksuota
Dropped arches	Neužfiksuota
Hypoplasia of deltoid muscle	Neužfiksuota
Limited elbow movement	Neužfiksuota
Limited movement of hinge joints	Neužfiksuota
Limited wrist movement	Neužfiksuota
Radial deviation of the hand	Neužfiksuota
Shortened 1st long bone of hand	Neužfiksuota
Small carpal bones	Neužfiksuota
Underdevelopment of upper limb muscles	Neužfiksuota
Webbed fingers or toes	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormality of eye movement	Labai dažnai (80–99%)
Abnormally small eyeball	Labai dažnai (80–99%)
Cross-eyed	Labai dažnai (80–99%)
Duane anomaly	Labai dažnai (80–99%)
Oculomotor apraxia	Labai dažnai (80–99%)
Oculomotor nerve palsy	Labai dažnai (80–99%)
Deeply set eye	Dažnai (30–79%)
Impaired ocular abduction	Dažnai (30–79%)
Impaired ocular adduction	Dažnai (30–79%)
Optic disc coloboma	Dažnai (30–79%)
Optic disc hypoplasia	Dažnai (30–79%)
Paroxysmal tonic upgaze	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Abnormality of the pupil	Kartais (5–29%)
Absent iris	Kartais (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Central heterochromia	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Compensatory head posture	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Gustatory lacrimation	Kartais (5–29%)
Hypoplastic iris stroma	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Marcus Gunn jaw winking synkinesis	Kartais (5–29%)
Notched pupil	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Hole in the back of the eye	Neužfiksuota
Impaired convergence	Neužfiksuota
Paralysis or weakness of muscles within or surrounding outer part of eye	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Short opening between the eyelids	Labai dažnai (80–99%)
Low hairline at back of neck	Dažnai (30–79%)
Narrow opening between the eyelids	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
Asymmetry of the posterior head	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Drooping lower lip	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Eyelid spasm	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Short neck	Kartais (5–29%)
Skin tag in front of the ear	Kartais (5–29%)
Webbed neck	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Abnormal nasopharynx morphology	Neužfiksuota
Bell's palsy	Neužfiksuota
Blockage of the rear opening of the nasal cavity	Neužfiksuota
Narrowing of the rear opening of the nasal cavity	Neužfiksuota
Palpebral fissure narrowing on adduction	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Shoulder dislocation	Visada
Joint stiffness	Labai dažnai (80–99%)
Abnormal vertebral segmentation and fusion	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal vertebral body morphology	Kartais (5–29%)
Absent collarbone	Kartais (5–29%)
Fused neck	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Permanent flexion of the finger or toe	Kartais (5–29%)
Short collarbone	Kartais (5–29%)
Vertebral fusion	Kartais (5–29%)
Vertebral segmentation defect	Kartais (5–29%)
Pectoralis major hypoplasia	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormal rotation of the kidneys	Labai dažnai (80–99%)
Crossed fused renal ectopia	Labai dažnai (80–99%)
Horseshoe kidney	Labai dažnai (80–99%)
Absent/small kidney	Dažnai (30–79%)
Bladder diverticulum	Dažnai (30–79%)
Abnormal kidney location	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Absent kidney	Neužfiksuota
Hydronephrosis	Neužfiksuota
Small kidneys	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormal heart rate	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)
Patent ductus arteriosus	Retai (1–4 %)
An opening in the wall separating the top two chambers of the heart	Neužfiksuota
Aneurysm	Neužfiksuota
Hole in heart wall separating two lower heart chambers	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Labai dažnai (80–99%)
Conductive deafness	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Abnormally shaped ears	Kartais (5–29%)
Narrow ear canal	Kartais (5–29%)
Narrow internal auditory canal	Kartais (5–29%)
Slit-like opening of the exterior auditory meatus	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abnormal connection between rectum and vagina	Kartais (5–29%)
Absent anus	Kartais (5–29%)
Anorectal anomaly	Kartais (5–29%)
Enlarged colon lacking nerve cells	Kartais (5–29%)
Intestinal malrotation	Neužfiksuota
Narrowing of anal opening	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Abnormal fingerprints	Dažnai (30–79%)
Irregular hyperpigmentation	Kartais (5–29%)
Patchy hypopigmentation of hair	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Epilepsy	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Spina bifida occulta	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Low platelet count	Dažnai (30–79%)
Elevated white blood count	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Severe short stature	Labai dažnai (80–99%)
Growth delay as children	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SALL4 and how often each is seen. Find out more at hpo.jax.org.

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