Caused by mutation in the Nipped-B-like gene (NIPBL, 608667.0001) [MOLECULAR BASIS] Prevalence of 0.6 to 10 per 100,000 individuals [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] Empiric risk for a sib of an affected child between 2 and 5% [MISCELLANEOUS] Many cases due to de novo mutation or chromosome aberration [MISCELLANEOUS]
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