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

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0100095:  neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
DOID:0070352: