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Hereditary spastic paraplegia 32
rareAutosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset 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.
- Identifiers
- MONDO:0012643 OMIM:611252Orphanet:171622
- Also known as
- autosomal recessive spastic paraplegia type 32 · hereditary spastic paraplegia type 32 · spastic paraplegia 32 · spastic paraplegia 32, autosomal recessive · SPG32
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