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GENATLAS PHENOTYPE
last update : 03-08-2010
Symbol SPG48
Location 7p22.1
HGNC id 22197
Name spastic paraplegia 48
Corresponding gene KIAA0415
Main clinical features
  • progressive spastic paraplegia associated with urinary incontinence
  • normal cerebral MRI with inconstant spinal hyperintensities at C3-C4 and C7
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name KIAA0415
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift deletion abnormal protein/loss of function  
    nonsense   abnormal protein/loss of function  
    Remark(s)