has material basis in germline mutation in DSTYK hereditary spastic paraplegia 23 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/hereditary_spastic_paraplegia_23 https://www.malacards.org/card/spastic_paraplegia_23_autosomal_recessive spastic paraplegia and pigmentary abnormalities Lison syndrome SPG 23 hereditary spastic paraplegia type 23 GARD:0000336 MEDGEN:167094 Orphanet:101003 spastic paraplegia vitiligo premature graying and characteristic facies spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome MONDO:0010046 SPG23 MESH:C536859 SCTID:726608002 spastic paraplegia with pigmentary abnormalities UMLS:C0796019 spastic paraplegia 23 autosomal recessive complex spastic paraplegia caused by mutation in DSTYK OMIM:270750 Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. DSTYK autosomal recessive complex spastic paraplegia DOID:0110774 spastic paraplegia vitiligo premature greying and characteristic facies complex hereditary spastic paraplegia