Traits

Traits linked to DKK1

dickkopf Wnt signaling pathway inhibitor 1

The Human Phenotype Ontology links 50 traits to DKK1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Chiari type I malformation	Always
Headache	Very often (80–99%)
Recurrent paroxysmal headache	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormal vestibulocochlear nerve morphology	Often (30–79%)
Abnormality of the eleventh cranial nerve	Often (30–79%)
Abnormality of the twelfth cranial nerve	Often (30–79%)
Cranial nerve compression	Often (30–79%)
Cranial nerve paralysis	Often (30–79%)
Distal peripheral sensory neuropathy	Often (30–79%)
Dysesthesia	Often (30–79%)
Fluid-filled cyst in spinal cord	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Inability to move vocal cords	Often (30–79%)
Myelopathy	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Progressive cerebellar ataxia	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Somatic sensory dysfunction	Often (30–79%)
Babinski sign	Sometimes (5–29%)
Brain stem compression	Sometimes (5–29%)
Central sleep apnea	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone pain	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Recurrent fractures	Very often (80–99%)
Anteriorly placed odontoid process	Often (30–79%)
Cervical C2/C3 vertebral fusion	Often (30–79%)
Compression fracture of a vertebral body	Often (30–79%)
Fused neck	Often (30–79%)
Scoliosis	Often (30–79%)
Fatigable weakness of swallowing muscles	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Small posterior fossa	Very often (80–99%)
Abnormal clivus morphology	Often (30–79%)
Stiff neck	Often (30–79%)
Basilar impression	Sometimes (5–29%)
Basilar invagination	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)
Functional abnormality of the inner ear	Often (30–79%)
Ringing in ears	Often (30–79%)
Adult onset sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Double vision	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Areflexia of upper limbs	Often (30–79%)
Abnormality of the musculature of the lower limbs	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Neck pain	Very often (80–99%)

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 DKK1 and how often each is seen. Find out more at hpo.jax.org.

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