/neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Rare Disease

MONDO:0100095

Also Known As

CONDSIASchildhood-onset stress-induced neurodegenerative ataxia-seizure syndromeneurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

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.