Traits

Traits linked to ATM

ATM serine/threonine kinase

The Human Phenotype Ontology links 133 traits to ATM, 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
Ataxia	Always
Difficulty articulating speech	Always
Progressive cerebellar ataxia	Always
Abnormal gait	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Abnormality of movement	Very often (80–99%)
Choreoathetosis	Very often (80–99%)
Glioblastoma multiforme	Very often (80–99%)
Tremor	Very often (80–99%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Depression	Often (30–79%)
Difficulty performing quick and alternating movements	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to walk	Often (30–79%)
Intention tremor	Often (30–79%)
Irritability	Often (30–79%)
Migraine	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Slurred speech	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Benign neoplasm of the central nervous system	Sometimes (5–29%)
Cancer of early nerve cells	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Disturbed sensory perception	Sometimes (5–29%)
Dysgraphia	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Diminished deep tendon reflex	Not recorded
Dystonia	Not recorded
Jerking	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Malabsorption	Very often (80–99%)
Primary peritoneal carcinoma	Very often (80–99%)
Anorexia	Often (30–79%)
Chronic diarrhea	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Rectal tumor	Often (30–79%)
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Cancer of the pancreas	Sometimes (5–29%)
Colon tumor	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Pancreatic adenocarcinoma	Sometimes (5–29%)
Stomach cancer	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
B-cell lymphoma	Very often (80–99%)
Decreased blood lymphocyte number	Very often (80–99%)
Acute lymphoblastic leukemia	Often (30–79%)
Bone marrow disease	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
Blood cancer	Not recorded
Cancer of lymphatic system	Not recorded
Decreased total CD4+ T cell proportion	Not recorded
Hodgkin lymphoma	Not recorded
Low T cell count	Not recorded
Non-Hodgkin lymphoma	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal fallopian tube morphology	Very often (80–99%)
Ovarian cancer	Very often (80–99%)
Polycystic ovaries	Very often (80–99%)
Abnormality of the testis	Sometimes (5–29%)
Prostate cancer	Sometimes (5–29%)
Urinary tract neoplasm	Sometimes (5–29%)
Uterine cancer	Rarely (1–4%)
Abnormal sperm development	Not recorded
Kidney cancer	Not recorded

Abnormality of the integument

Trait	How often it is seen
Premature graying of hair	Very often (80–99%)
Prematurely aged appearance	Very often (80–99%)
Loss of hair color	Often (30–79%)
Absent/small skin	Sometimes (5–29%)
Basal cell carcinoma	Sometimes (5–29%)
Multiple birthmarks	Sometimes (5–29%)
Abnormality of the hair	Not recorded
Birthmark	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent/small thymus	Very often (80–99%)
Mucosal telangiectasiae	Very often (80–99%)
Swollen lymph nodes	Very often (80–99%)
Telangiectasia of the skin	Very often (80–99%)
Increased spleen size	Often (30–79%)
Cardiac diverticulum	Sometimes (5–29%)
Small thymus	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alpha-fetoprotein concentration	Always
High liver enzymes	Very often (80–99%)
Diabetes mellitus	Often (30–79%)
Fever	Often (30–79%)
Abnormality of creatine metabolism	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Glucose intolerance	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of chromosome stability	Very often (80–99%)
Decreased circulating antibody level	Very often (80–99%)
Decreased circulating IgA concentration	Often (30–79%)
Decreased circulating IgG concentration	Not recorded
Decreased circulating IgG2 concentration	Not recorded
Defective B cell differentiation	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormality of eye movement	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Amaurosis fugax	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent chest infections	Always
Abnormality of the immune system	Very often (80–99%)
Cellular immunodeficiency	Very often (80–99%)
Decreased immune function	Very often (80–99%)
Recurrent respiratory infections	Very often (80–99%)
Recurrent bronchitis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle degeneration	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Skeletal tumor	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Very often (80–99%)
Neoplasm of the thyroid gland	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Sometimes (5–29%)
Female hypogonadism	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Small dilated blood vessels near membrane covering front of eye and eyelids	Always
Abnormally small head	Often (30–79%)
Sinus disease	Not recorded

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Often (30–79%)
Cancer of skin pigment cells	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Often (30–79%)
Breast tumor	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Not recorded

Constitutional symptom

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

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

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