Autosomal recessive spastic paraplegia type 32 (Q99393): Difference between revisions
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15 August 2026
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Latest revision as of 16:03, 16 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_35767708 |
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| English | Autosomal recessive spastic paraplegia type 32 |
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. |
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CID11:ID_35767708
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dki-india-ID_35767708
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Concluído
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15 August 2026
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