Bosma arhinia microphthalmia syndrome is a rare genetic condition that affects the development of the nose and eyes. Patients with this syndrome are born without a nose (arhinia) and have abnormally small eyes (microphthalmia). The exact causes of this condition…
Weaver syndrome, also known as Weaver-Smith syndrome or Camptodactyly Syndrome, is a rare genetic condition associated with abnormal growth and intellectual disabilities. It is caused by mutations in the EZH2 or NSD1 genes, and is characterized by several distinct features.…
The SGCE gene, also known as the epsilon sarcoglycan gene, is a gene that plays a role in various health conditions. It is one of the genes listed in databases and references for genetic testing and research on neurological disorders.…
Klippel-Trenaunay syndrome is a rare condition that affects the development of blood vessels, soft tissues, and bones. It is characterized by the abnormal overgrowth of these tissues in one area of the body. The exact cause of Klippel-Trenaunay syndrome is…
The MMADHC gene, also known as methylmalonic aciduria and homocystinuria type D, is a gene that encodes the MMADHC protein. This protein is involved in the metabolism of methylmalonic acid and cobalamin (vitamin B12) and regulates the levels of these…
The KHDC3L gene, also known as KHDC3L3, is a gene that has been found to be related to certain health conditions in women. It has been referenced in scientific articles and provides information on conditions such as recurrent hydatidiform moles.…
Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder characterized by distinctive facial features, overgrowth, and multiple congenital abnormalities. The frequency of SGBS is unknown, but it has been reported in both males and females. The condition is sometimes referred to…
Feingold Syndrome, also known as Feingold-Kingston syndrome or oculo-digito-esophageal-duodenal syndrome, is a rare genetic condition that affects multiple systems in the body. It is named after Dr. Bertil Feingold, who first described the syndrome in 1975. The syndrome is caused…
Transient Neonatal Diabetes Mellitus (TNDM), also known as 6q24-related TNDM, is a critical condition that affects newborn babies. It is characterized by abnormal blood sugar regulation, with the levels of sugar in the blood not being controlled normally. The name…
Epidermolysis bullosa with pyloric atresia, also known as EB-PA, is a rare genetic condition that affects the layers of the skin and the underlying tissue. This condition is caused by mutations in the genes ITGB4 and ITGA6, which code for…