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GENATLAS PHENOTYPE
last update : 06/02/2012
Symbol SPG47
Location 1p13.2
HGNC id 572
Name spastic paraplegia 47
Other name(s) autosomal recessive hereditary spastic paraplegia and thin corpus callosum
Corresponding gene AP4B1
Other symbol(s) AR-HSP-TCC
Main clinical features
  • progressive spastic paraparesis, intellectual disability, seizures, thin corpus callosum and periventricular white matter abnormalities (PMID:21440262))
  • early childhood onset slowly progressive spastic paraparesis, mental retardation, and seizures with ventriculomegaly or thin corpus callosum
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name adaptor-related protein complex 4, beta 1 subunit
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift     c.664delC (PMID:22290197)
    Remark(s)