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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease