Autosomal recessive spastic paraplegia type 23

Orpha code: 101003OMIM code: 270750

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Lison syndrome
Parapareza spastyczna - bielactwo nabyte - przedwczesne siwienie - charakterystyczna twarz
SPG23
Zespół Lisona
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
Kod ORPHA
101003
Kod OMIM
270750
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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