ataxia-telangiectasia-like disorder 2
MONDO:0014399Mondo
Findings
No curated finding names ataxia-telangiectasia-like disorder 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
28 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
- 4 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Cutaneous telangiectasiaHPOHP:0034697
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- NeurodegenerationHPOHP:0002180
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- 4 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Telangiectasia of the skinHPOHP:0100585
- Very frequent (80% to 99% of cases)
- Conjunctival telangiectasiaHPOHP:0000524
- 3 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 4 reported patients
- Occasional (5% to 29% of cases)
- Absent pubertal growth spurtHPOHP:0031087
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Retinal telangiectasiaHPOHP:0007763
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.
- PCNAHGNC:8729
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: ataxia-telangiectasia-like disorder 2
- Also called
- ataxia-telangiectasia-like disorder type 2