Expert

MECP2 duplication syndrome is a rare genetic disorder that is caused by an extra copy of the MECP2 gene on the X chromosome. It is mostly seen in males, as they only have one X chromosome. This condition is associated…

Encephalocraniocutaneous lipomatosis (ECCL) is a very rare genetic condition that affects multiple parts of the body, including the brain, skull, and skin. It is also known as Haberland syndrome, after the German neurologist Hans Haberland, who first described it in…

The 1q211 microduplication is a rare genetic condition that is associated with the duplication of a specific region on chromosome 1. This condition is characterized by a range of signs and symptoms that can vary widely between affected individuals. While…

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disease that affects individuals and their families. It is characterized by the development of leiomyomas, which are benign tumors that can appear in the skin and uterus. In some…

Glucose-galactose malabsorption is a congenital genetic condition associated with the inability to absorb glucose and galactose, two types of sugars, in the small intestinal tract. This rare disorder affects the transport proteins responsible for moving glucose and galactose into the…

The MT-ND5 gene is a mitochondrial gene that encodes a subunit of NADH-ubiquinone oxidoreductase, which is also known as complex I in the electron transport chain. This gene plays a crucial role in the production of ATP, the main source…

The UROS gene, also known as uroporphyrinogen III synthase, is responsible for producing an enzyme involved in the production of heme. Heme is an essential component of hemoglobin, the protein responsible for carrying oxygen in red blood cells. Mutations in…

The DVL3 gene is a genetic effect related gene that has been extensively studied. According to PubMed, this variant has been linked to several dominant diseases and syndromes including Robinow syndrome—disorders characterized by skeletal changes. The DVL3 gene is part…

Genetic ancestry testing, sometimes referred to as direct-to-consumer genetic testing, is a type of testing that provides information about an individual’s genetic background, specifically their ancestry and genealogy. This type of testing looks at the variation in a person’s DNA…

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic condition characterized by severe growth retardation and developmental abnormalities. It is one of several types of MOPD, with each type being caused by different mutations in genes involved…