Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

Definition:

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations affecting the protein kinase domain of CDK13 cause this syndrome.

References:

[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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