MBD5-associated neurodevelopmental disorder is a genetic condition that affects the neurological development of children. This disorder is caused by mutations in the MBD5 gene, located on chromosome 2. The MBD5 gene is responsible for encoding proteins that play a role…
Craniofacial microsomia, also known as Goldenhar syndrome, is a rare genetic condition that causes abnormalities in facial structures. It is characterized by underdevelopment or hypoplasia of the mandible (lower jaw) and other facial bones. This condition is often associated with…
The RAB18 gene is a genetic variant that is associated with severe health conditions. It has been extensively studied in scientific articles and listed in databases such as PubMed, OMIM, and Genet. The gene, also known as rab-18, plays a…
Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) is a rare genetic neurological condition that leads to rapid loss of myelin, the white substance that surrounds nerve fibers in the brain. FAHN is caused by mutations in a gene called FA2H, which is…
ADNP syndrome, also known as the Activity Dependent Neuroprotective Protein-related syndrome, is a rare genetic disorder with a complex and distinct phenotype. This article aims to provide a comprehensive overview of ADNP syndrome, packed with scientific information and resources for…
Nonsyndromic male infertility is a condition that affects males and is characterized by the inability to father a child without any other associated symptoms or diseases. CATSPER1-related nonsyndromic male infertility is a specific form of this condition that is caused…
T-cell Immunodeficiency Congenital Alopecia and Nail Dystrophy is a rare genetic condition that affects the immune system, hair, and nails. It is also known as T-cell immunodeficiency with associated nail dystrophy and central alopecia, as well as Frank’s syndrome. This…
The CBFB gene, also known as core-binding factor subunit beta, is an essential gene that plays a crucial role in the regulation of various cellular functions. It is a part of a complex called core-binding factor (CBF), which consists of…
The MT-TV gene, also known as trnaval or MTTL1, is a rare genetic variant that is associated with mitochondrial disorders. Mitochondrial disorders are a group of genetic conditions that affect the mitochondria, the powerhouses of the cell. These disorders can…
The BAP1 gene, also known as BRCA1-associated protein 1, is involved in the regulation of cell growth and division. Mutations in this gene have been found to be associated with the development of several types of cancers, including melanoma, mesothelioma,…