Autosomal dominant spastic paraplegia type 12 (Q100883)
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Autosomal dominant spastic paraplegia caused by non-coding CAG repeat expansion in the PPP2R2B gene coding for protein phosphatase 2. It is characterized by childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
| Language | Label | Description | Also known as |
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| default for all languages | ID_598149528 |
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| English | Autosomal dominant spastic paraplegia type 12 |
Autosomal dominant spastic paraplegia caused by non-coding CAG repeat expansion in the PPP2R2B gene coding for protein phosphatase 2. It is characterized by childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. |
