Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

doi:10.1002/ajmg.a.64233

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Article

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

American journal of medical genetics. Part A - 1 Jan 2026

Stewart Russell, Ezell Kimberly M, Bell Deanna S, Corner Brian, McMinn Ashley, Cogan Joy D, Hamid Rizwan, Rives Lynette, Phillips John A, Paddu Nina, Srivastava Gitanjali, Marom Ronit, Ladha Farah A, Soler-Alfonso Claudia, Franciskovich Rachel, Koziura Mary, Pruthi Sumit, Richard Gabriele, Sheedy Christina B, Cassini Thomas

Abstract excerpt

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular...

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PMID: 40838347
DOI: 10.1002/ajmg.a.64233
PMCID: PMC13282996

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MED12L

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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