The syndrome is caused by a mutation in one of the two copies of the gene<unk> , which encodes the protein cyclin dependent kinase 13. Cyclin-dependent kinases are protein kinases, which have an essential function in the cell cycle and the transcription of DNA. This is specifically through protein phosphorylation, which functions to turn off or on certain proteins, allowing cell differentiation and the progression of the normal developmental processes. A mutation in one of the two copies of these genes results in some proteins not being formed correctly and therefore some developmental processes being disrupted or not completed. Specifically,<unk>  appears to phosphorylate RNA polymerase II and enable it to carry out transcription of genes on DNA. It appears to largely do this when RNA polymerase II is transcribing certain genes involved in promoting cell development. Mutations in<unk>  that have been identified in individuals with this<unk>  have mostly been missense mutations (single amino acid changes) that have changed the amino acid structure of the otherwise highly conserved (little-changed) protein kinase domain of the gene, leading to structural changes that affect the operation of this critical protein. The most commonly identified mutations are those that change the 842nd amino acid of the protein, an asparagine (Asn), to a serine (Ser) or an aspartic acid (Asp), but many others have been identified. Different mutations, depending on how much they reduce the kinase functionality of the gene, have resulted in different severities of the syndrome. Those with total activity-eliminating mutations have, for example, had microcephaly. Mutations in both copies of<unk>  are embryonic lethal in mice. Mice who have had both of their copies of<unk>  knocked out do not survive past the 16th day of embryonic development due to heart failure, as the heart has significantly fewer myocytes and less myocardium, with less expression of myosin. All organs are smaller and less developed, and the embryo is reduced in size.
CDK13-related disorder
Chromosome 5q deletion syndrome
Lightwood–Albright syndrome
Chromosome instability syndrome
McCune–Albright syndrome
GATA2 deficiency
WNT4 deficiency
Chromosomal deletion syndrome