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GENATLAS PHENOTYPE

last update : 06-10-2021

Symbol	SPG85
Location	6p21.33
Name	spastic paraplegia 85
Corresponding gene	ABHD16A
Main clinical features	intellectual disability and progressive spasticity of the upper and lower limbs at cerebral MRIs, thin corpus callosum and white matter anomalies, associatedd with an axonal neuropathy, and in any cases myoclonic seizures most likely through the dysregulation of lipid species including lyso-PS
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
	metabolism/lipoprotein-lipid
Type	disease

Remark(s)