Traits

Traits linked to TOR1A

torsin family 1 member A

The Human Phenotype Ontology links 88 traits to TOR1A, by body system: features seen in people with one of the gene's rare conditions.

TOR1A

Abnormality of the nervous system

Trait	How often it is seen
Akinesia	Always
Babinski sign	Always
Degeneration of cerebellum	Always
Difficulty articulating speech	Always
Dystonia	Always
Generalized dystonia	Always
Global developmental delay	Always
Hand tremor	Always
Inability to walk	Always
Increased reflexes	Always
Motor delay	Always
Oromandibular dystonia	Always
Tremor	Always
Abnormal gait	Very often (80–99%)
Abnormality of movement	Very often (80–99%)
Jerking	Very often (80–99%)
Limb myoclonus	Very often (80–99%)
Spinal myoclonus	Very often (80–99%)
Absent speech development	Often (30–79%)
Anxiety	Often (30–79%)
Depression	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Panic attack	Often (30–79%)
Personality disorder	Often (30–79%)
Writer's cramp	Often (30–79%)
Delayed speech and language development	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Abnormal posturing	Not recorded
Torsion dystonia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Bell's palsy	Always
Deep laugh lines	Always
Little lower jaw	Always
Long philtrum	Always
Nasal tip, upturned	Always
Prominent back of the head	Always
Round face	Always
Short neck	Always
Wide nasal bridge	Always
Wry neck	Often (30–79%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Eyelid spasm	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
11 pairs of ribs	Always
Arthrogryposis multiplex congenita	Always
Flexed joint that cannot be straightened	Always
Generalized decreased muscle tone	Always
Multiple joint contractures	Always
Permanent flexion of the finger or toe	Always
Scoliosis	Always
Spasticity and rigidity of muscles	Always
Muscular abnormality	Very often (80–99%)
Kyphoscoliosis	Often (30–79%)
Hunched back	Not recorded
Low muscle tone	Not recorded
Prominent swayback	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent ankle reflexes	Always
Elbow flexion contracture	Always
Hammertoe	Always
Hand clenching	Always
Hip dislocation	Always
Inward turned thumb	Always
Limitation of knee mobility	Always
Pes valgus	Always
Rocker bottom foot	Always
Club feet	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrostomy tube feeding in infancy	Always
Inguinal hernia	Always
Poor swallowing	Always
Umbilical hernia	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acanthocytosis	Always
Normocytic anemia	Always
Poikilocytosis	Always

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Optic disc pallor	Always
Drooping upper eyelid	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always
Less than 10 fetal movements in 12 hours	Always

Abnormality of the ear

Trait	How often it is seen
Large ears	Always
Prominent antihelix	Always

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Always
Stiff lung or chest wall causing decreased lung volume	Always

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Prenatal growth deficiency	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Heart stops beating	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Medullary nephrocalcinosis	Always

Abnormality of the integument

Trait	How often it is seen
Premature skin wrinkling	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Often (30–79%)

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 TOR1A and how often each is seen. Find out more at hpo.jax.org.

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