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ENPoretti-Boltshauser Syndrome (PTBHS)
Alias:
Ataxia - Intellectual Disability - Oculomotor Apraxia - Cerebellar Cysts Syndrome
Ptbhs
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
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Poretti-Boltshauser Syndrome, also known as ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, is related to myopia and apraxia. An important gene associated with Poretti-Boltshauser Syndrome is LAMA1 (Laminin Subunit Alpha 1). Affiliated tissues include eye and pons, and related phenotypes are ataxia and cognitive impairment
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MALACARDS
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