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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SSCP
Location 2q31
Name symmetrical spastic cerebral palsy, non progressive
Corresponding gene GAD1
Other symbol(s) SCP, CPSQ1
Main clinical features
  • neurological disorders of movement and/or posture, non-progressive forms of symmetrical, spastic cerebral palsy
  • nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development
  • spastic cerebral palsy with onset in infancy, moderate to severe mental retardation, spastic diplegia, hypertonicity, hyperreflexia, and extensor plantar responses
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)