What does Wikipedia say?
Wikipedia and a host of many medical .gov websites state that:
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and dysmorphic facial features.
What do parents say?
The definitions are inaccurate, misleading and insensitive.
Yes, 40% of CDK13 children have some form of a heart defect. However 60% of #CDK13 genetic mutation children do NOT have a heart defect. So is it fair to say that this mutation is "characterised" by or known for "heart defects"?
Also, saying that our children have "intellectual disability" seams a bit inaccurate. A developmental delay and processing difficulties are challenges, which can be overcome with various degrees of success. CDK13 genetic mutation children are NOT "intellectually disabled". They CAN develop and learn.
Some mothers have also expressed feeling somewhat resentful of Wiki saying that our kids' features are "dysmorphic", as in deformed. Our children share facial features typical for the CDK13 mutation, or "characteristic" of the mutation, if you will, but calling our children's faces dysmorphic is insensitive and hurtful. Our children are beautiful, whatever features they may have that are common for the CDK13 disorder.