Traits

Traits linked to SALL1

spalt like transcription factor 1

The Human Phenotype Ontology links 100 traits to SALL1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Extra thumb	Very often (80–99%)
Finger-like thumb	Very often (80–99%)
Abnormal feet structure	Often (30–79%)
Broad thumb	Often (30–79%)
Curvature of little finger	Often (30–79%)
Dropped arches	Often (30–79%)
Toe curvature	Often (30–79%)
3-4 finger cutaneous syndactyly	Sometimes (5–29%)
Absent toe	Sometimes (5–29%)
Absent/small 3rd toe	Sometimes (5–29%)
Broad bone of big toe	Sometimes (5–29%)
Finger bends toward pinky	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Left and right leg differ in length or width	Sometimes (5–29%)
Partial duplication of the thumb bones	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Webbed 4th-5th toes	Sometimes (5–29%)
Webbed first and second toes	Sometimes (5–29%)
Clinodactyly of the 5th toe	Not recorded
Extra bone on end of second long bone of hand	Not recorded
Fusion of the long bones of the feet	Not recorded
Short long bone of foot	Not recorded
Webbed 2nd and 3rd toes	Not recorded
Webbed 3rd-4th toes	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Abnormal vagina morphology	Sometimes (5–29%)
Abnormality of the uterus	Sometimes (5–29%)
Abnormally shaped kidney	Sometimes (5–29%)
Cleft of scrotum	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Urethral valve	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Bifid uterus	Not recorded
Multicystic kidney dysplasia	Not recorded
Renal dysplasia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormal connection between rectum and vagina	Very often (80–99%)
Absent anus	Very often (80–99%)
Rectoperineal fistula	Very often (80–99%)
Anteriorly placed anus	Often (30–79%)
Constipation	Often (30–79%)
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Loss of bowel control	Sometimes (5–29%)
Absence or narrowing of first part of small bowel	Not recorded
Acid reflux	Not recorded
Narrowing of anal opening	Not recorded
Umbilical hernia	Not recorded

Abnormality of the ear

Trait	How often it is seen
Small ears	Always
Abnormally shaped ears	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Hearing impairment	Often (30–79%)
Overfolded ears	Often (30–79%)
Abnormal tragus morphology	Sometimes (5–29%)
Lop ear	Sometimes (5–29%)
Large ears	Not recorded
Overfolding of the superior helices	Not recorded
Satyr ear	Not recorded
Stahl ear	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Skin tag in front of the ear	Very often (80–99%)
Benign eye tumor	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Abnormally small head	Not recorded
Pit in front of the ear	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of corpus callosum	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Holoprosencephaly	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Tethered cord	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Sometimes (5–29%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormal pulmonary valve morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of vision	Sometimes (5–29%)
Abnormally small eyeball	Sometimes (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Duane anomaly	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)
Short stature	Sometimes (5–29%)
Small for gestational age	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal vertebral morphology	Sometimes (5–29%)
Abnormality of the ribs	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Firm lump under the skin	Often (30–79%)

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 SALL1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test