neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Findings
No curated finding names neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0100095), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
27 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
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 12 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 13 of 16 reported patients
- Developmental regressionHPOHP:0002376
- 10 of 16 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 5 reported patients
- SeizureHPOHP:0001250
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.
- ADPRSHGNC:21304
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
- Also called
- childhood-onset stress-induced neurodegenerative ataxia-seizure syndromeCONDSIAS