Traits

Traits linked to ROBO1

roundabout guidance receptor 1

The Human Phenotype Ontology links 70 traits to ROBO1, by body system: features seen in people with one of the gene's rare conditions.

ROBO1

Abnormality of the endocrine system

Trait	How often it is seen
Central hypothyroidism	Always
Decreased circulating ACTH concentration	Always
Decreased circulating insulin-like growth factor 1 concentration	Always
Ectopic posterior pituitary	Always
Low blood cortisol level	Always
Reduced circulating growth hormone concentration	Always
Abnormality of the hypothalamus-pituitary axis	Very often (80–99%)
Underdeveloped pituitary gland	Very often (80–99%)
Absent pituitary stalk	Often (30–79%)
Decreased thyroid-stimulating hormone level	Often (30–79%)
Delayed puberty	Often (30–79%)
Interrupted pituitary stalk	Often (30–79%)
Underactive thyroid	Often (30–79%)
Absent pituitary gland	Sometimes (5–29%)
Decreased circulating follicle stimulating hormone concentration	Sometimes (5–29%)
Decreased circulating luteinizing hormone level	Sometimes (5–29%)
Diabetes insipidus	Sometimes (5–29%)
Small adrenal glands	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Hypoplasia of the pons	Always
Thin corpus callosum	Always
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
More grooves in brain	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aqueductal stenosis	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Hand mirror movements	Sometimes (5–29%)
Partial agenesis of the corpus callosum	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always
Hyperechogenic kidneys	Very often (80–99%)
Absent kidney on one side	Often (30–79%)
Bilateral renal agenesis	Often (30–79%)
Stage 2 chronic kidney disease	Often (30–79%)
Underdeveloped bladder	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Primary amenorrhea	Sometimes (5–29%)
Stage 5 chronic kidney disease	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Farsightedness	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Iris degeneration	Sometimes (5–29%)
Septo-optic dysplasia	Sometimes (5–29%)
Congenital nystagmus	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad forehead	Always
Broad philtrum	Always
Highly arched eyebrow	Always
Little lower jaw	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Tetralogy of Fallot with pulmonary stenosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short big toe	Often (30–79%)
Shortened 1st long bone of hand	Often (30–79%)
Club feet	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight	Very often (80–99%)
Growth delay as children	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Conjugated hyperbilirubinemia	Always
Recurrent low blood sugar levels	Always
Low blood sugar	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Anteriorly placed anus	Often (30–79%)
Intestinal malrotation	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Mixed hearing impairment	Sometimes (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the respiratory system

Trait	How often it is seen
Subglottic stenosis	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 ROBO1 and how often each is seen. Find out more at hpo.jax.org.

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