Traits

Traits linked to RHOBTB2

Rho related BTB domain containing 2

The Human Phenotype Ontology links 145 traits to RHOBTB2, by body system: features seen in people with one of the gene's rare conditions.

RHOBTB2

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Global developmental delay	Always
Intellectual disability	Always
Epileptic encephalopathy	Very often (80–99%)
Episodic hemiplegia	Very often (80–99%)
Focal motor seizure	Very often (80–99%)
Generalized myoclonic seizure	Very often (80–99%)
Abnormal autonomic nervous system physiology	Often (30–79%)
Absent speech development	Often (30–79%)
Ataxia	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Dystonia	Often (30–79%)
EEG abnormality	Often (30–79%)
EEG with burst suppression	Often (30–79%)
Focal tonic seizure	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Inability to walk	Often (30–79%)
Increased reflexes	Often (30–79%)
Lethargy	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Paroxysmal dystonia	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Repetitive movements	Often (30–79%)
Tetraparesis	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Absent reflexes	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Bulbar signs	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Diffuse cerebral atrophy	Sometimes (5–29%)
Diffuse white matter abnormalities	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
EEG with spike-wave complexes	Sometimes (5–29%)
Episodic ataxia	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Generalized clonic seizure	Sometimes (5–29%)
Generalized tonic seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Paroxysmal dyskinesia	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Teeth grinding	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)
Worsening neurological symptoms	Sometimes (5–29%)
Brain imaging abnormality	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Broad nasal tip	Sometimes (5–29%)
Decreased facial muscle tone	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Exaggerated cupid's bow	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Full lower lip	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Low insertion of columella	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Thin eyebrow	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)
Cleft palate	Rarely (1–4%)
Sloping forehead	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Very often (80–99%)
Gastrointestinal dysmotility	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Anorexia	Often (30–79%)
Constipation	Often (30–79%)
Diarrhea	Often (30–79%)
Feeding difficulties	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor suck	Often (30–79%)
Poor swallowing	Often (30–79%)
Vomiting	Often (30–79%)
Umbilical hernia	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Abnormal involuntary eye movements	Often (30–79%)
Dilated pupil	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Inward turning cross eyed	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Deeply set eye	Sometimes (5–29%)
Ocular flutter	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Cross-eyed	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Often (30–79%)
Skewfoot	Sometimes (5–29%)
Broad finger	Rarely (1–4%)
Short finger	Rarely (1–4%)
Wide toe bones	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal T-wave	Sometimes (5–29%)
Cardiac conduction abnormality	Sometimes (5–29%)
Abnormal heart rate	Rarely (1–4%)
Disease of the heart muscle	Rarely (1–4%)
Hole in heart wall separating two lower heart chambers	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Decreased muscle tone in infant	Often (30–79%)
Poor head control	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Often (30–79%)
Paleness	Often (30–79%)
Excessive sweating	Sometimes (5–29%)
Absent thumbnail	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal dysplasia	Rarely (1–4%)
Short penis	Rarely (1–4%)
Ureterocele	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Aspiration	Sometimes (5–29%)
Breathing difficulties	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Dehydration	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 RHOBTB2 and how often each is seen. Find out more at hpo.jax.org.

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