Traits

Traits linked to TANGO2

transport and golgi organization 2 homolog

The Human Phenotype Ontology links 88 traits to TANGO2, 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
Absent speech development	Always
Ataxia	Always
Babinski sign	Always
Brisk reflexes	Always
Clonus	Always
Coma	Always
Difficulty articulating speech	Always
Global developmental delay	Always
Intellectual disability	Always
Loss of developmental milestones	Always
Motor delay	Always
Repeated seizures without recovery between them	Always
Abnormality of extrapyramidal motor function	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized brain degeneration	Often (30–79%)
Incoordination	Often (30–79%)
Involuntary movements	Often (30–79%)
Moderate global developmental delay	Often (30–79%)
Dystonia	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Generalized myoclonic seizure	Sometimes (5–29%)
Generalized tonic seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Multifocal seizures	Sometimes (5–29%)
Severe global developmental delay	Sometimes (5–29%)
Abnormal gait	Not recorded
Hyperactive deep tendon reflexes	Not recorded
Inability to coordinate movements when walking	Not recorded
Ongoing loss of nerve cells	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aldolase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Metabolic acidosis	Always
Myoglobinuria	Always
Elevated circulating tetradecenoylcarnitine concentration	Very often (80–99%)
High blood ammonia levels	Very often (80–99%)
Higher than normal levels of lactate in blood	Very often (80–99%)
Increased lactate in body	Very often (80–99%)
Ketonuria	Very often (80–99%)
High liver enzymes	Often (30–79%)
Low blood sugar	Often (30–79%)
Elevated circulating fatty acylcarnitine concentration	Sometimes (5–29%)
Hypoglycemic seizures	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal EKG	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Prolonged QT interval	Often (30–79%)
Prolonged QTc interval	Often (30–79%)
Ventricular tachycardia	Often (30–79%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Extra heart beat	Sometimes (5–29%)
Slow heartbeats	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Torsade de pointes	Sometimes (5–29%)
Heart stops beating	Not recorded
Ventricular fibrillation	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Always
Breakdown of skeletal muscle	Very often (80–99%)
EMG: myopathic abnormalities	Very often (80–99%)
Acute rhabdomyolysis	Often (30–79%)
Spastic diplegia	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Muscle weakness	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Supranuclear gaze palsy	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Gastrointestinal dysmotility	Often (30–79%)
Poor swallowing	Sometimes (5–29%)
Oral-pharyngeal dysphagia	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Compensated hypothyroidism	Often (30–79%)
Premature breast development	Sometimes (5–29%)
Premature pubic hair growth	Sometimes (5–29%)
Underactive thyroid	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Drooling	Always
Myopathic facies	Always
Abnormally small head	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	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 TANGO2 and how often each is seen. Find out more at hpo.jax.org.

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