A novel de novo frameshift variant in ZMYM2 expands the neuropsychiatric spectrum of NECRC syndrome: a case report.

Abstract excerpt

BACKGROUND: ZMYM2-related neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC; OMIM #619522) is an ultra-rare autosomal dominant condition caused by heterozygous loss-of-function (LoF) variants in ZMYM2. Since its initial description in 2020, the phenotypic spectrum has expanded to include Rett-like features and cortical myoclonus, with an increasing number of cases...

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