Brunet-Wagner neurodevelopmental syndrome

Definition:

Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is a severe autosomal recessive disorder with infantile hypotonia, severe developmental delay, and microcephaly. It has been reported that bi-allelic RBL2-truncating variants cause this syndrome. RBL2 is the main RB family member that binds E2F4 and functions as a key regulator of cell division. RBL2 is also involved in neuronal differentiation and neural survival.

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