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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
CONDSIAS
exact
childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
exact
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
exact