- Rare Genetic Diseases in Children - resource directory offering links for rare childhood genetic diseases, family guides, and more.
- Question of Genes, A - PBS special explores questions and ethical issues raised by genetic research and testing.
- Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency - a newsletter about a rare genetic disorder of fat metabolism that causes muscle breakdown.
- Smith-Lemli-Opitz Syndrome - SLO/RSH is a genetic disorder that affects the development of children both before and after birth.
- Children's Hospital of Philadelphia: Congenital Hyperinsulinism Center - resources for parents and professionals about the disorder which causes low blood sugar or hypoglycemia in infants and children.
- National Dysautonomia Research Foundation - offers information and support for people affected by disorders of the autonomic nervous system.
- Mucolipidosis IV Foundation - information forum on ML$, a rare genetic disease.
- Genetic Interest Group - national U.K. alliance of organizations which support children, families, and individuals affected by genetic disorders and genetic diseases.
- Chromosome 9P- Network - international not-for-profit organization dedicated to educating and bringing together families with children who have Alfi's syndrome.
- Xeroderma Pigmentosum Society - provides information on the disease also known as XP.
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