Traits

Traits linked to GDF3

growth differentiation factor 3

The Human Phenotype Ontology links 46 traits to GDF3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal vertebral segmentation and fusion	Very often (80–99%)
Abnormality of the vertebral column	Very often (80–99%)
Cervical C2/C3 vertebral fusion	Very often (80–99%)
Abnormality of the ribs	Often (30–79%)
Abnormality of the shoulder	Often (30–79%)
High shoulder blade	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal sacrum morphology	Sometimes (5–29%)
Narrow spinal canal	Sometimes (5–29%)
Cervical C3/C4 vertebral fusion	Not recorded
Cervical C5/C6 vertebrae fusion	Not recorded
Cervical C6/C7 vertebrae fusion	Not recorded
Thoracic scoliosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball on both sides	Very often (80–99%)
Notched pupil	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Not recorded
Cat eye	Not recorded
Hypoplasia of the fovea	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Optic disc hypoplasia	Not recorded
Visual impairment	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Facial asymmetry	Very often (80–99%)
Limitation of neck motion	Very often (80–99%)
Low hairline at back of neck	Very often (80–99%)
Short neck	Very often (80–99%)
Webbed neck	Very often (80–99%)
Abnormal temporal bone morphology	Often (30–79%)
Congenital muscular torticollis	Often (30–79%)
Cleft palate	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Headache	Often (30–79%)
Spina bifida occulta	Often (30–79%)
Abnormal cranial nerve morphology	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Split spine	Sometimes (5–29%)
Synkinesis	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the genitourinary system	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal anus position	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Neck pain	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 GDF3 and how often each is seen. Find out more at hpo.jax.org.

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