Four individuals with developmental delay and various symptoms were found to have mutations in the same gene: CCDC47.
CCDC47 gene governs cell signaling by calcium molecules. In mice models, depletion of CCDC47 leads to embryonic death. However, humans can live with disrupted gene – but those individuals develop complex disorder involving malfunctions of many body’s systems.
As researchers note, main symptoms include:
woolly hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay
No name for the disorder was proposed, therefore it can be called CCDC47-associated disorder.
Mutations reside in segments of the gene: exon 7 and exon 11. They lead to disruption of a protein product of the gene, significantly harming many pathways relying on calcium signaling.
More: “Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay”, M. Morimoto et al., 2018, doi:10.1016/j.ajhg.2018.09.014.