oculocerebrorenal syndrome


oc·​u·​lo·​ce·​re·​bro·​re·​nal syndrome ˌäk-yə-(ˌ)lō-sə-ˌrē-brō-ˈrēn-ᵊl-, -ˌser-ə-brō- How to pronounce oculocerebrorenal syndrome (audio)
: 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 intellectual disability, 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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oculocerebrorenal syndrome


Cite this Entry

“Oculocerebrorenal syndrome.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/oculocerebrorenal%20syndrome. Accessed 17 Apr. 2024.

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