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last update : 08-10-2013
Symbol SPG52
Location 14q12
Name spastic paraplegia 52
Other name(s) congenital spastic tetraplegia 6
Corresponding gene AP4S1
Other symbol(s) CPSQ6
Main clinical features
  • neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development
  • dysmorphic features included a prominent and bulbous nose, wide mouth, and coarse features
  • neonatal hypotonia and severe cognitive impairment and progressive, early childhood onset, spastic paraplegia, microcephaly, short stature, facial dysmorphism
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name adaptor-related protein complex 4, sigma 1 subunit