Catalog

Autosomal recessive spastic paraplegia type 26

No MMS code

Link to WHO Definition

Autosomal recessive spastic paraplegia type 26 – http://id.who.int/icd/entity/1151541328

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.