Stormorken syndrome
Stormorken syndrome is a rare genetic condition that affects multiple body systems. It was first described in the scientific literature in 1993…
SBDS gene
The SBDS gene is listed in various scientific resources and databases like OMIM (Online Mendelian Inheritance in Man) and PubMed. It is…
TPI1 gene
The TPI1 gene encodes an enzyme called triosephosphate isomerase. This enzyme plays a crucial role in glycolysis, which is the process in…
MECP2 duplication syndrome
MECP2 duplication syndrome is a rare genetic disorder that is caused by an extra copy of the MECP2 gene on the X…
Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL) is a very rare genetic condition that affects multiple parts of the body, including the brain, skull, and skin.…
1q211 microduplication
The 1q211 microduplication is a rare genetic condition that is associated with the duplication of a specific region on chromosome 1. This…
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disease that affects individuals and their families. It is characterized by…
Glucose-galactose malabsorption
Glucose-galactose malabsorption is a congenital genetic condition associated with the inability to absorb glucose and galactose, two types of sugars, in the…
MT-ND5 gene
The MT-ND5 gene is a mitochondrial gene that encodes a subunit of NADH-ubiquinone oxidoreductase, which is also known as complex I in…