Mediator complex-related neurodevelopmental disorder
A group of neurodevelopmental disorders caused by germline mutations in genes encoding subunits of the Mediator complex, a multi-protein assembly required for RNA polymerase II-dependent transcription. Shared phenotypic features include intellectual disability, speech and language delay, behavioral abnormalities, and variable structural brain anomalies.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
MONDO:7770011
disease by molecular mechanism
is_a
mediatoropathy
related
SPAC688.08 SPAC589.02c