Autosomal recessive spastic paraplegia type 32 (Q99393): Difference between revisions
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Síndrome autossômica recessiva caracterizada por paraplegia espástica lentamente progressiva (com dificuldade de locomoção aparecendo aos 6-7 anos de idade) associada a incapacidade intelectual leve. Exames de imagem do cérebro revelam corpo caloso fino, atrofia cortical e cerebelar e disrafia pontina. O fenótipo SPG32 foi mapeado para um locus no cromossomo 14q12-q21. | |||
| description / en | description / en | ||
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. | |||
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. |
