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SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

Sebastiano Aleo¹, Lidia Pezzani^1,2, Donatella Milani¹

¹Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milano, Italy.

Molecular Syndromology

|January 20, 2023

Abstract

Introduction:

Mendelian disorders of the epigenetic machinery are a growing group of disorders exhibiting several overlapping clinical features that are probably due to common abnormalities at the epigenomic level, which lead to downstream convergence at the transcriptomic level.

Case Presentation:

Here, we report a new case of short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome with a severe ocular phenotype and hypogonadism.

Conclusion:

Similarities and connections with other mendelian disorders of the epigenetic machinery are highlighted, confirming SBIDDS' enrolment as a new spoke of the epigenetic machinery wheel.

Keywords:

Epigenetic machinery PRMT7 SBIDDS syndrome WES

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