A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or...

The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene"...

protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions...

prominent example of a genetically determined neurodevelopmental disorder is Trisomy 21, also known as Down syndrome. This disorder usually results from...

organisms Genetic, used as an adjective, refers to genes Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo Genetic mutation...

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt...

Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone...

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by executive dysfunction occasioning symptoms of inattention...

syndromic autism. ASD is associated with several genetic disorders, perhaps due to an overlap in genetic causes. Distinguishing between ASD and other diagnoses...