Mosaic variegated aneuploidy syndrome (MVAS) is an autosomal recessive disorder characterized by mosaic aneuploidy. Its clinical manifestations include growth and developmental delay, congenital ...

Polycystic kidney disease (PKD) is a genetic disorder that leads to cyst formation in the kidneys, causing complications like ...

Consanguinity is common in multiple regions, particularly in the Middle East and Africa, and can have positive and negative consequences. A significant proportion of genetic diseases manifest as ...

A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...

Cystic fibrosis (CF) is a life-threatening autosomal recessive disease affecting over 160,000 people worldwide. CF is caused by loss-of-function mutations in the CF transmembrane conductance regulator ...

Kenali ciri-ciri, gejala, hingga pengobatan kelainan genetik langka, sindrom Waardenburg. Baca selengkapnya di sini!

Bipolar disorder is a mood disorder that includes at least one manic episode – characterized by elevated or agitated mood and often reduced need for sleep – accompanied by episodes of major ...

New immunotherapies have the potential to mediate a sustained remission from certain autoimmune diseases. This has been referred to as achieving an ‘immune reset’ in patients. Here ...

The Naylor siblings were all born with myotonic dystrophy, a genetic disorder that causes muscles to waste away. It wasn’t until later that the family knew something was wrong, so they made ...

Conversion disorder is a psychiatric condition in which a person has neurological symptoms affecting movement or the senses, like paralysis or blindness, with no physiological cause. In the past, such ...

ADHD and bipolar disorder have some overlapping symptoms, which can make diagnosis difficult. But symptoms of ADHD tend to appear before the age of 12. Bipolar disorder may start later.

Blood clotting disorders are inherited or acquired conditions that affect the body’s ability to form blood clots. Some types of blood clotting disorders may cause excessive formation of blood clots, ...