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GENATLAS PHENOTYPE
last update : 06-01-2016
Symbol SPG18
Location 8p11.23
HGNC id 1356
Name spastic paraplegia 18
Corresponding gene ERLIN2
Main clinical features
  • spasticity, hyperreflexia, extensor plantar reflexes, lower-limb weakness, severe intellectual disability, aphasia and marked hypertonia
  • spastic paraplegia complicated by mental retardation and thin corpus callosum
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name ER lipid raft associated 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   absent protein nullimorphic allele
    Remark(s)