Table 3.

Allelic Disorders (not in the Differential Diagnosis of Cornelia de Lange Syndrome)

GeneDisorderReference
RAD21 Autosomal recessive visceral neuromyopathy (Mungan syndrome)OMIM 611376; Bonora et al [2015]
SMC1A Early-infantile epileptic encephalopathy, type 85OMIM 301044; Goldstein et al [2015], Jansen et al [2016], Symonds et al [2017]

From: Cornelia de Lange Syndrome

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