Expert

The HEXB gene, also known as the hexosaminidase B gene, is a gene that is crucial for the proper functioning of the body. It plays a vital role in the breakdown and recycling of certain substances in our cells. This…

The HINT1 gene is a gene that has been associated with certain neurological conditions, particularly neuropathy. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, along with other genes that are linked to various diseases and conditions.…

Schindler disease is a rare genetic condition that falls under the category of lysosomal storage disorders. It has a low frequency within the population, making it a rare disease. Schindler disease is caused by a deficiency in the alpha-N-acetylgalactosaminidase (alpha-NAGA)…

The ANKRD11 gene is associated with several health conditions, including KBG syndrome. KBG syndrome is a rare genetic disorder that affects young individuals. It is characterized by intellectual disability, facial changes, and other related symptoms. The ANKRD11 gene mutation is…

Cartilage-hair hypoplasia, also known as chondrodysplasia, is a rare autosomal recessive condition characterized by short stature, sparse hair, and abnormal cartilage development. It is caused by mutations in the RMRP gene, which is responsible for the production of a noncoding…

The ASPM gene is a protein-coding gene that is primarily associated with microcephaly, a condition characterized by a smaller than average head size and intellectual disability. It is also related to other genetic variants and diseases such as primary autosomal…

Alopecia areata is a rare autoimmune disorder that causes hair loss in patches on the scalp. It can also affect other areas of the body. This condition occurs when the body’s immune system mistakenly attacks hair follicles, resulting in hair…

Intelligence is a complex trait that is influenced by a combination of genetic and environmental factors. While there is evidence to suggest that genetics plays a significant role in determining intelligence, the extent of this influence is still a topic…

Genetic conditions are disorders caused by abnormalities in an individual’s genes or chromosomes. These abnormalities can result in a wide range of symptoms and health problems, including developmental delays, intellectual disability, and increased susceptibility to certain diseases. One category of…

As technology continues to advance, genetic testing has become an increasingly popular topic in the field of healthcare. Genetic tests can provide individuals with more information about their genetic makeup, including their risk for certain diseases and conditions. This chapter…