Wilson disease is a rare genetic disorder that affects the body's ability to process copper. It can lead to the…
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder that affects an individual's ability to break down certain…
Galactosemia is a rare genetic disorder that affects an individual's ability to metabolize galactose, a sugar found in milk and…
Marfan syndrome is a genetic disorder that affects the connective tissue in the body, leading to a range of symptoms…
Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to metabolize an amino acid called phenylalanine. If…
Huntington's disease (HD), also known as Huntington's chorea, is a rare, inherited neurodegenerative disorder that typically presents in adulthood. However,…
Tay-Sachs disease is a rare and severe genetic disorder that primarily affects the nervous system. It is most commonly seen…
Neurofibromatosis (NF) is a genetic disorder that affects the nervous system, primarily causing the growth of tumors on nerves throughout…
Muscular dystrophy (MD) refers to a group of genetic disorders that primarily affect the muscles, leading to muscle weakness, muscle…
Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when there is an extra copy of…