Trăsături

Trăsături asociate cu SALL1

spalt like transcription factor 1

Human Phenotype Ontology asociază 100 trăsături cu SALL1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Extra thumb	Foarte des (80–99%)
Finger-like thumb	Foarte des (80–99%)
Abnormal feet structure	Des (30–79%)
Broad thumb	Des (30–79%)
Curvature of little finger	Des (30–79%)
Dropped arches	Des (30–79%)
Toe curvature	Des (30–79%)
3-4 finger cutaneous syndactyly	Uneori (5–29%)
Absent toe	Uneori (5–29%)
Absent/small 3rd toe	Uneori (5–29%)
Broad bone of big toe	Uneori (5–29%)
Finger bends toward pinky	Uneori (5–29%)
Fused toes	Uneori (5–29%)
Left and right leg differ in length or width	Uneori (5–29%)
Partial duplication of the thumb bones	Uneori (5–29%)
Talipes	Uneori (5–29%)
Webbed 4th-5th toes	Uneori (5–29%)
Webbed first and second toes	Uneori (5–29%)
Clinodactyly of the 5th toe	Neînregistrat
Extra bone on end of second long bone of hand	Neînregistrat
Fusion of the long bones of the feet	Neînregistrat
Short long bone of foot	Neînregistrat
Webbed 2nd and 3rd toes	Neînregistrat
Webbed 3rd-4th toes	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal failure	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormal kidney location	Uneori (5–29%)
Abnormal vagina morphology	Uneori (5–29%)
Abnormality of the uterus	Uneori (5–29%)
Abnormally shaped kidney	Uneori (5–29%)
Cleft of scrotum	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Multiple kidney cysts	Uneori (5–29%)
Small kidneys	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Urethral valve	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Bifid uterus	Neînregistrat
Multicystic kidney dysplasia	Neînregistrat
Renal dysplasia	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormal connection between rectum and vagina	Foarte des (80–99%)
Absent anus	Foarte des (80–99%)
Rectoperineal fistula	Foarte des (80–99%)
Anteriorly placed anus	Des (30–79%)
Constipation	Des (30–79%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Loss of bowel control	Uneori (5–29%)
Absence or narrowing of first part of small bowel	Neînregistrat
Acid reflux	Neînregistrat
Narrowing of anal opening	Neînregistrat
Umbilical hernia	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Small ears	Întotdeauna
Abnormally shaped ears	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Overfolded ears	Des (30–79%)
Abnormal tragus morphology	Uneori (5–29%)
Lop ear	Uneori (5–29%)
Large ears	Neînregistrat
Overfolding of the superior helices	Neînregistrat
Satyr ear	Neînregistrat
Stahl ear	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Skin tag in front of the ear	Foarte des (80–99%)
Benign eye tumor	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Narrow opening between the eyelids	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Abnormally small head	Neînregistrat
Pit in front of the ear	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Agenesis of corpus callosum	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Tethered cord	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Uneori (5–29%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormal pulmonary valve morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of vision	Uneori (5–29%)
Abnormally small eyeball	Uneori (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Duane anomaly	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Uneori (5–29%)
Short stature	Uneori (5–29%)
Small for gestational age	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal vertebral morphology	Uneori (5–29%)
Abnormality of the ribs	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Firm lump under the skin	Des (30–79%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SALL1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu