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Genetic Diseases
About Colon Cancer: Genetics 
This document describes two hereditary conditions: Familial Adenomatous Polyposis (FAP) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC). The importance of genetic testing and counseling is emph... Details >
About Marfan Syndrome
The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and developmen... Details >
Achromatopsia Network
This is the home page to Achromatopsia Network. The purpose of this Web site is to provide information about achromatopsia and about the publications that are available pertaining to this rare vision... Details >
Basic Facts about Von Hippel-Lindau (VHL)
This page provides basic facts about Von Hippel-Lindau (VHL), a genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels.... Details >
Chapters and Groups: United Mitochondrial Disease Foundation
In this page you can find chapters and groups by area in the United State.... Details >
Characteristics of Fragile X Syndrome
This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
Clinical Features of Shwachman-Diamond Syndrome
This document presents the various clinical characteristics of Shwachman-Diamond Syndrome sorted into two categories: the primary features (those that are likely a direct result of the genetic fault t... Details >
Clinics - National Down Syndrome Congress
This page provides a link to each state medical clinic that provides assistance for parents with children affected by Down Syndrome.... Details >
Congenital Adrenal Hyperplasia (CAH): The Facts You Need To Know
This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >
Family Connection: Cystinosis Research Foundation
This site is designed as a place to share stories about the children and young adults with Cystinosis. ... Details >