Poretti-Boltshauser Syndrome

About the Disease
Poretti-Boltshauser Syndrome, also known as ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, is related to myopia and ocular motor apraxia. An important gene associated with Poretti-Boltshauser Syndrome is LAMA1 (Laminin Subunit Alpha 1). Affiliated tissues include eye, pons and retina, and related phenotypes are ataxia and cognitive impairment

Common Targets
NLGN4X | LAMA1

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