Features include always present findings: Ataxia; and very common findings: Bilateral tonic-clonic seizure and Global developmental delay. 27 total HPO annotations.

ADPRS encodes ADP-ribosylserine hydrolase (363 aa). ADP-ribosylhydrolase that preferentially hydrolyzes the scissile alpha-O-linkage attached to the anomeric C1'' position of ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on serine and threonine, free poly(ADP-ribose) and O-acetyl-ADP-D-ribose. Highest expression in Cells EBV-transformed lymphocytes (78.1 TPM) and Testis (69.3 TPM).

Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures is associated with mutations in the ADPRS gene on chromosome 1.

ADPRS is classified as a druggable target (Dna Repair and Enzyme categories) with score 0.0.

16 pathogenic variants reported in ADPRS in ClinVar, including hotspot variants 599343 and 590302.

Genetic testing for ADPRS is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 2 very common features, 5 common features.

No clinical trials have been registered for neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.

10 publications have been identified in PubMed for neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (30%), and Other (20%).