Autosomal recessive spastic paraplegia type 26 (Q99392): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Paraplegia espástica autossômica recessiva causada por mutações no gene B4GALNT1. O início ocorre nas primeiras duas décadas de vida. As características clínicas incluem espasticidade e fraqueza de membros inferiores. Indivíduos com esse transtorno também podem apresentar neuropatia, incapacidade intelectual, neuropatia, sinais cerebelares e sinais extrapiramidais. | |||
| description / en | description / en | ||
Autosomal recessive spastic paraplegia that is caused by mutations in the B4GALNT1 gene. Onset is within the first two decades of life. Clinical characteristics include lower extremity spasticity and weakness. Individuals with this disorder can also have neuropathy, intellectual disability, neuropathy, cerebellar signs, and extrapyramidal signs. | |||
Revision as of 16:03, 16 August 2026
Autosomal recessive spastic paraplegia that is caused by mutations in the B4GALNT1 gene. Onset is within the first two decades of life. Clinical characteristics include lower extremity spasticity and weakness. Individuals with this disorder can also have neuropathy, intellectual disability, neuropathy, cerebellar signs, and extrapyramidal signs.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1151541328 |
||
| English | Autosomal recessive spastic paraplegia type 26 |
Autosomal recessive spastic paraplegia that is caused by mutations in the B4GALNT1 gene. Onset is within the first two decades of life. Clinical characteristics include lower extremity spasticity and weakness. Individuals with this disorder can also have neuropathy, intellectual disability, neuropathy, cerebellar signs, and extrapyramidal signs. |
