Genetic disorders
Browse our index of articles on genetic disorders to learn about a specific condition. Information includes signs and symptoms of the condition, how it is diagnosed and where to go for support.
Resources and support To learn more about genetic disorders and services, visit NSW Centre for Genetics Education. If you or someone you love is living with a genetic condition, you can visit Human Genetics Society of Australia's ' Consumer Resources List ' webpage to find a list of support groups that meet in person or online.
Genetic Disorders
Genetic disorders occur when a mutation affects your genes. There are many types of disorders . They can affect physical traits and cognition.
Top Genetic Disorders Conditions and Diseases Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Brugada Syndrome Charcot-Marie-Tooth Disease Cleft Lip and Cleft Palate Cleidocranial Dysplasia (CCD) Cystic Fibrosis Familial Adenomatous Polyposis Hirschsprungs Disease Huntington's Disease Klinefelter Syndrome Kneist Syndrome ...
Genetic Disorders
Genetic disorders are health problems that happen because of some type of abnormality in a person's genetic material. There are several types of genetic disorders . Some disorders are caused by a genetic change (mutation) in a single gene; some are caused by an abnormality in one of the chromosomes; and some are complex, involving numerous genes and influences from environmental factors.
G6PD deficiency or 'favism' is a genetic disorder . It leads to red blood cell breakdown upon exposure to certain triggers, but can be managed.
Genetic Disorders
A mutation in a person's genes can cause a medical condition called a genetic disorder . Learn about the types and how they are detected.
A list of genetic , orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
List of genetic disorders
List of genetic disorders 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" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
What is the Genetic and Rare Diseases Information Center? Progress in data science and an increased understanding of disease genetics lead experts to agree that more than an estimated 10,000 rare diseases affect millions of people in the United States. Each disease may be rare individually, but people with rare diseases often face similar ...