hereditary spastic paraplegia 23
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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
DSTYK autosomal recessive complex spastic paraplegia
exact
Lison syndrome
exact
SPG 23
related
SPG23
exact
autosomal recessive complex spastic paraplegia caused by mutation in DSTYK
exact
hereditary spastic paraplegia type 23
exact
spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
exact
spastic paraplegia 23
exact
spastic paraplegia and pigmentary abnormalities
related
spastic paraplegia vitiligo premature graying and characteristic facies
related
spastic paraplegia vitiligo premature greying and characteristic facies
related
spastic paraplegia with pigmentary abnormalities
exact