Traits

Traits linked to BRAT1

BRCA1 associated ATM activator 1

The Human Phenotype Ontology links 56 traits to BRAT1, 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
Degeneration of cerebellum	Always
Exaggerated startle response	Always
Focal impaired awareness seizure	Always
Global developmental delay	Always
Increased reflexes	Always
Myoclonic spasms	Always
Seizure affecting one half of brain	Always
Delayed CNS myelination	Often (30–79%)
EEG with burst suppression	Often (30–79%)
Focal motor status epilepticus	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Abnormal autonomic nervous system physiology	Not recorded
Abnormality of the cerebellum	Not recorded
Absent speech development	Not recorded
Agitation	Not recorded
Babinski sign	Not recorded
Clonus	Not recorded
Delayed ability to walk	Not recorded
Delayed speech and language development	Not recorded
Epilepsy	Not recorded
Gliosis	Not recorded
Inability to coordinate movements when walking	Not recorded
Intellectual disability	Not recorded
Lack of coordination of movement	Not recorded
Loss of brain cells	Not recorded
Multifocal seizures	Not recorded
Tremor	Not recorded
Truncal titubation	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always
Little lower jaw	Sometimes (5–29%)
Abnormally small head	Not recorded
Broad face	Not recorded
Decreased volume of lip	Not recorded
Eye folds	Not recorded
High palate	Not recorded
Long philtrum	Not recorded
Progressively abnormally small cranium	Not recorded
Tented mouth	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint contracture	Always
Low muscle tone in trunk	Always
Rigidity	Always
Cytochrome C oxidase-negative muscle fibers	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Horizontal jerk nystagmus	Always
Cerebral visual impairment	Often (30–79%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always
Curvature of little finger	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Inguinal hernia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Slow heartbeats	Always

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Hypothermia	Always

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 BRAT1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test