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GENATLAS PHENOTYPE

last update : 08-11-2017

Symbol	SPPRS
Location	6q16.3
Name	spastic paraplegia and psychomotor retardation with or without seizures
Corresponding gene	HACE1
Main clinical features	neurodevelopmental disorder with onset in infancy; affected children show hypotonia followed by severely impaired global development and significant motor disability; most develop seizures in childhood and have speech delay other more variable features included ocular abnormalities, such as strabismus, myopia, and retinal dystrophy, dysarthria, and dystonic posturing
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neuromuscular
Type	disease

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