has material basis in germline mutation in GBA2 hereditary spastic paraplegia 46 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_46_autosomal_recessive A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. GARD:0017476 hereditary spastic paraplegia 46 spastic paraplegia 46, autosomal recessive SPG46 UMLS:C2828721 MONDO:0013737 GBA2 autosomal recessive complex spastic paraplegia Orphanet:320391 SCTID:723822009 autosomal recessive complex spastic paraplegia caused by mutation in GBA2 OMIM:614409 hereditary spastic paraplegia type 46 MEDGEN:473687 DOID:0110798 autosomal recessive spastic paraplegia type 46 complex hereditary spastic paraplegia