The POLR1C gene is one of the genes related to genetic disorders known as Treacher Collins syndrome, also known as mandibulofacial dysostosis. Treacher Collins syndrome is a rare and clinically variable disorder that affects the development of the bones and…
The ARX gene, short for Aristaless Related Homeobox, is a gene that is thought to play a part in the development of the brain. Mutations and changes within the ARX gene have been linked to a number of genetic disorders…
Cranioectodermal dysplasia is a rare genetic condition that affects the development and function of multiple tissues and organs in the body. It is also known as IFT-A cranioectodermal dysplasia, referring to the gene associated with the condition. The signs and…
Proximal 18q deletion syndrome is a rare genetic disorder caused by the deletion of a segment of the long arm of chromosome 18. This syndrome is associated with a variety of symptoms and can affect individuals in different ways. Scientific…
Meige disease, also known as Meige syndrome or idiopathic oromandibular dystonia, is a rare hereditary neurological disorder characterized by involuntary movements, particularly of the lower face and jaw. It is named after French neurologist Henri Meige, who first described the…
Shwachman-Diamond syndrome (SDS) is a rare genetic condition that affects different systems in the body. It is primarily characterized by bone marrow dysfunction, leading to a decrease in the production of blood cells, particularly white blood cells. The frequency of…
Aicardi syndrome is a rare genetic condition that affects only females. It is believed to be caused by a spontaneous mutation in one of the genes on the X chromosome, although the exact cause is still unknown. The National Institute…
The AMN gene, also known as AMN, is a gene responsible for encoding a protein called amen, which plays a crucial role in the body. Mutations in this gene can lead to a condition known as AMN proteinuria, which is…
X-linked chondrodysplasia punctata 2 X-linked Chondrodysplasia Punctata 2 is a rare genetic condition that affects newborns. It is often inherited in an X-linked pattern, meaning that it is more common in males. This condition is typically present at birth and…
The ABHD5 gene, also known as the CGI-58 gene, is an important gene that is involved in various health conditions. This gene codes for the ABHD5 protein, which is involved in the breakdown of fats in the body. Changes in…