Traits

Traits linked to DACT1

dishevelled binding antagonist of beta catenin 1

The Human Phenotype Ontology links 79 traits to DACT1, 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%)
Curvature of little finger	Often (30–79%)
Dropped arches	Often (30–79%)
Toe curvature	Often (30–79%)
Absent toe	Sometimes (5–29%)
Absent/small 3rd toe	Sometimes (5–29%)
Broad bone of big toe	Sometimes (5–29%)
Broad thumb	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%)
Sirenomelia	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bifid uterus	Often (30–79%)
Crossed fused renal ectopia	Often (30–79%)
Hypospadias	Often (30–79%)
Renal failure	Often (30–79%)
Undescended testes	Often (30–79%)
Vesicoureteral reflux	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%)
Multiple kidney cysts	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Urethral valve	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Anencephaly	Very often (80–99%)
Cervical spina bifida	Very often (80–99%)
Myelomeningocele	Very often (80–99%)
Spinal dysraphism	Very often (80–99%)
Agenesis of corpus callosum	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)

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%)
Loss of bowel control	Sometimes (5–29%)
Omphalocele	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%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Small ears	Always
Abnormally shaped ears	Very often (80–99%)
Cupped ear	Often (30–79%)
Hearing impairment	Often (30–79%)
Overfolded ears	Often (30–79%)
Abnormal tragus morphology	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%)

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%)
Facial asymmetry	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)
Wide mouth	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%)
Bifid sternum	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Scoliosis	Not recorded

Abnormality of the endocrine system

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

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)
Short stature	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 DACT1 and how often each is seen. Find out more at hpo.jax.org.

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