has material basis in germline mutation in AP5Z1 lysosomal storage disease hereditary spastic paraplegia 48 https://www.malacards.org/card/spastic_paraplegia_48_autosomal_recessive autosomal recessive spastic paraplegia type 48 UMLS:C3150901 MONDO:0013342 hereditary spastic paraplegia type 48 hereditary spastic paraplegia caused by mutation in AP5Z1 spastic paraplegia 48, autosomal recessive DOID:0110800 Orphanet:306511 OMIM:613647 GARD:0017378 SPG48 Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported. AP5Z1 hereditary spastic paraplegia MEDGEN:462251 SCTID:763367009 hereditary spastic paraplegia