Basel-Vanagaite-Smirin-Yosef syndrome

Definition:

Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. It has been reported that mutations in MED25 cause this syndrome.

References:

[1]. Lina Basel-Vanagaite, et al. Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun;134(6):577-87. [Content Brief]

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