oculocerebrorenal syndrome


oc·u·lo·ce·re·bro·re·nal syndrome

noun
\ˌäk-yə-(ˌ)lō-sə-ˌrē-brō-ˈrēn-əl-, -ˌser-ə-brō-\

Definition of OCULOCEREBRORENAL SYNDROME

: a rare human developmental disorder that is inherited as an X-linked recessive trait and that is marked by congenital cataracts, glaucoma, and abnormal nystagmus affecting the eyes, by severe mental retardation, generalized hypotonia, and absence of or reduction in certain tendon reflexes due to defects in the central nervous system, and by acidosis and hyperaminoaciduria due to defects in the renal tubules—called also Lowe syndrome

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