MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

A study of more than 2,500 simplex families cited MSL2 de novo variants as possible contributors to ASD, although the gene did not reach statistical significance. 51 It was subsequently confirmed as a candidate with recurrent de novo variants in an ASD cohort. 16 In 2021, a case study of an individual whose diagnosis was facilitated by genotypic matchmaking through the electronic health record was published.

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