Traits

Traits linked to BDNF

brain derived neurotrophic factor

The Human Phenotype Ontology links 28 traits to BDNF, 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
Abnormality of the autonomic nervous system	Very often (80–99%)
Intellectual disability	Often (30–79%)
Cancer of early nerve cells	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Dysfunction of lateral corticospinal tracts	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Ganglioneuroblastoma	Sometimes (5–29%)
Ganglioneuroma	Sometimes (5–29%)
Tumors of the central nervous system	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Absent/small iris	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Visual impairment	Often (30–79%)
Glaucoma	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Drooping lower lip	Often (30–79%)
Little lower jaw	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Displacement of the urethral meatus	Often (30–79%)
Undescended testes	Often (30–79%)
Ambiguous external genitalia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Obesity	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	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 BDNF and how often each is seen. Find out more at hpo.jax.org.

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