ataxia-telangiectasia-like disorder 1
Findings
No curated finding names ataxia-telangiectasia-like disorder 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.
Definition from the Mondo Disease Ontology (MONDO:0024557), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Oculomotor apraxiaHPOHP:0000657
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- 2 of 2 reported patients
- Absent Achilles reflexHPOHP:0003438
- 1 of 2 reported patients
Show the remaining 27
- Enlarged interhemispheric fissureHPOHP:0100953
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- Frequent (30% to 79% of cases)
- Mask-like faciesHPOHP:0000298
- Frequent (30% to 79% of cases)
- Orofacial dyskinesiaHPOHP:0002310
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MRE11HGNC:7230
- Definitive · G2P · Autosomal recessive · 2010
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: ataxia-telangiectasia-like disorder 1
- Also called
- ataxia - telangiectasia-like disorder caused by mutation in MRE11ataxia-telangiectasia-like disorder caused by mutation in MRE11MRE11 ataxia - telangiectasia-like disorderMRE11 ataxia-telangiectasia-like disorder