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Спастична параплегія - синдром передчасного статевого дозрівання

ORPHA:2826· ICD-10 G11.4· Spastic paraplegia-precocious puberty syndrome

Визначення(English summary)

Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Childhood