Catalog

Autosomal recessive spastic paraplegia type 32

No MMS code

Link to WHO Definition

Autosomal recessive spastic paraplegia type 32 – http://id.who.int/icd/entity/35767708

Autosomal recessive syndrome characterized by slowly progressive spastic paraplegia (with walking difficulties appearing at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.