Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Alpha fetoprotein abnormal
Always present (100%)HP:0006254
Lower respiratory tract infections
Always present (100%)HP:0002783
Progressive cerebellar ataxia
Always present (100%)HP:0002073
Small dilated blood vessels near membrane covering front of eye and eyelids
Always present (100%)HP:0000524
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Abnormality of chromosome stability
Very frequent (80-99%)HP:0003220
Abnormality of movement
Very frequent (80-99%)HP:0100022
Ataxia
Very frequent (80-99%)HP:0001251
Cellular immunodeficiency
Very frequent (80-99%)HP:0005374
Choreoathetoid movements
Very frequent (80-99%)HP:0001266
Decreased circulating immunoglobulin concentration
Very frequent (80-99%)HP:0004313
Delayed puberty
Very frequent (80-99%)HP:0000823
Eye movement issue
Very frequent (80-99%)HP:0000496
Gait disturbance
Very frequent (80-99%)HP:0001288
Immune deficiency
Very frequent (80-99%)HP:0002721
Immunological abnormality
Very frequent (80-99%)HP:0002715
Increased liver function tests
Very frequent (80-99%)HP:0002910
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Mucosal telangiectasiae
Very frequent (80-99%)HP:0100579
Premature graying of the hair
Very frequent (80-99%)HP:0002216
Prematurely aged appearance
Very frequent (80-99%)HP:0007495
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Sclerocystic ovaries
Very frequent (80-99%)HP:0000147
Squint
Very frequent (80-99%)HP:0000486
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Thymic hypoplasia or aplasia
Very frequent (80-99%)HP:0010515
Abnormal tissue mass
Frequent (30-79%)HP:0002664
Acute lymphocytic leukemia
Frequent (30-79%)HP:0006721
Cerebellar tremor
Frequent (30-79%)HP:0002080
Chronic diarrhoea
Frequent (30-79%)HP:0002028
Related Conditions
Spinocerebellar disease(parent)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)
Congenital immunodeficiency disease(parent)
Telangiectasia disorder(parent)
Immunodeficiency associated with chromosomal abnormality(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of immune system(parent)
Hereditary disorder of nervous system(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary neoplastic syndrome(parent)
Developmental hereditary disorder(parent)
Central nervous system complication(parent)
Quick Facts
- SNOMED CT
- 68504005
- UMLS CUI
- C0004135
- Fully Specified Name
- Ataxia-telangiectasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.