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A reference for what the literature reports. Not medical advice.

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Mediator complex-related neurodevelopmental disorder

MONDO:1060233Mondo

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Findings

No curated finding names Mediator complex-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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.

Definition from the Mondo Disease Ontology (MONDO:1060233), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: disease by molecular mechanism
Mendelian neurodevelopmental disorder
Narrower terms (4): cardiac anomalies - developmental delay - facial dysmorphism syndrome
intellectual developmental disorder 61
intellectual disability, autosomal recessive 18
MED12-related intellectual disability syndrome