PropertyValue
?:definition
  • 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.
  • 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 greying of hair and characteristic facies (i.e. thin with \'\'sharp\'\' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all