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ENMiller-Dieker Lissencephaly Syndrome (MDLS)
Alias:
Miller-Dieker Syndrome
Mds
Miller Dieker Syndrome
Lissencephaly Due to 17p13.3 Deletion
Telomeric Deletion 17p
Monosomy 17p13.3
Mdls
Classical Lissencephaly Syndrome
Classical Lissencephaly
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Miller-Dieker Lissencephaly Syndrome, also known as miller-dieker syndrome, is related to pachygyria and polymicrogyria, and has symptoms including seizures An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Vesicle-mediated transport. Affiliated tissues include brain and kidney, and related phenotypes are intellectual disability and motor delay
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