Polymicrogyria, Bilateral Perisylvian, X-Linked (BPPX)

Polymicrogyria, Bilateral Perisylvian, X-Linked(来自ICD-11)
别称:
Bilateral Perisylvian Polymicrogyria
Congenital Bilateral Perisylvian Syndrome
Polymicrogyria, Bilateral Perisylvian
Perisylvian Syndrome, Congenital Bilateral
Bppx
Pmgx
Cbps
Bpp
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Polymicrogyria, Bilateral Perisylvian, X-Linked, also known as bilateral perisylvian polymicrogyria, is related to megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome and polymicrogyria. An important gene associated with Polymicrogyria, Bilateral Perisylvian, X-Linked is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include cortex and brain, and related phenotypes are abnormality of neuronal migration and bilateral perisylvian polymicrogyria
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MALACARDS
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