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GENATLAS PHENOTYPE

last update : 17-11-2021

Symbol	SPG82
Location	17q25.3
Name	spastic paraplegia 82
Corresponding gene	PCYT2
Main clinical features	progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs variably impaired intellectual development with language difficulties, also ocular anomalies, such as nystagmus and visual impairment, and seizures brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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