Traits

Traits linked to PLXNA1

plexin A1

The Human Phenotype Ontology links 23 traits to PLXNA1, 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
Global developmental delay	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Colpocephaly	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Overactive lower leg reflex	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Limited hair on end of eyebrow	Sometimes (5–29%)
Short neck	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic disc hypoplasia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Sometimes (5–29%)
Large earlobe	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Small kidney on one side	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Dilation of Virchow-Robin spaces	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Sometimes (5–29%)

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 PLXNA1 and how often each is seen. Find out more at hpo.jax.org.

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