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Параліч горизонтального погляду з прогресуючим сколіозом

ORPHA:2744· ICD-10 H49.4· Horizontal gaze palsy with progressive scoliosis

Визначення(English summary)

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Adolescent, Childhood