Many studies have linked the presence of specific bacteria to various diseases. But a general overgrowth of gut bacteria can be a symptom of different conditions, including colorectal cancer and inflammatory bowel disease. A study counting gut microbiome proposes that microbial load, rather than the disease, could explain the presence of certain pathogens.

WDR45 is located on the X chromosome. Its pathogenic variants are associated with various neurodegenerative disorders that are predominantly reported in females and present a wide range of clinical phenotypes, from early-onset developmental delay to neurodegeneration and multiple epileptic syndromes.

Orofacial clefting is a common birth defect that affects 1 in 700 newborns, and includes cleft lip, cleft palate and cleft lip and palate, with a strong genetic component, thus being highly heritable. Researchers have identified new gene variants tied to orofacial clefting.