Condition: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE


rs587779388 in AP4B1;AP4B1-AS1 gene and SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.