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

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.

Also known as: CONDSIAS, childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

1 clinical trial for this condition and its sub-types, 1 tagged with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures itself.