Basel-Vanagaite-Smirin-Yosef Syndrome (BVSYS)

Alias:

Basel-Vanagait-Smirin-Yosef Syndrome

Bvsys

Congenital Cataract-Microcephaly-Nevus Flammeus Simplex-Severe Intellectual Disability Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Basel-Vanagaite-Smirin-Yosef Syndrome, also known as basel-vanagait-smirin-yosef syndrome, is related to polymicrogyria, bilateral perisylvian, x-linked and polymicrogyria. An important gene associated with Basel-Vanagaite-Smirin-Yosef Syndrome is MED25 (Mediator Complex Subunit 25). Affiliated tissues include eye and brain, and related phenotypes are severe global developmental delay and nevus flammeus of the forehead

Related ID：

MALACARDS：BSL045

OMIM：616449

MESH：D000015