Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Definition:
References:
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[1]. Alejandro Sifrim, et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016 Sep;48(9):1060-5. [Content Brief]
[2]. Mark J Hamilton, et al. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. J Med Genet. 2018 Jan;55(1):28-38. [Content Brief]
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