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GENATLAS PHENOTYPE

last update : 17-11-2021

Symbol	SPG84
Location	22q11.21
Name	spastic paraplegia 84
Corresponding gene	PI4KA
Main clinical features	onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life additional features may include nystagmus, urinary urgency, joint contractures, and possible learning disabilities
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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