Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-12-2016
Symbol SPG62
Location 10q24.31
Name spastic paraplegia 62
Corresponding gene ERLIN1
Main clinical features
  • from leg pain to walking disability between the ages of 2.5 and 13 years, with spasticity, and dysarthria
  • cerebellar signs and normal eye findings as well as increased deep tendon reflexes, amyotrophy, and normal brain MRI
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s)