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The ectodermal dysplasia (ED) syndromes are a group of about 150 heritable disorders that affect the ectoderm, the outer layer of tissue in a developing baby. ED syndromes affect both males and female... Details >
This is the home page to Achromatopsia Network. The purpose of this website is to provide information about achromatopsia and about the publications that are available pertaining to this rare vision ... Details >
Alpha-1-antitrypsin deficiency is a common hereditary disorder characterized by a reduction of serum levels of Alpha-1, emphysema, and occasionally liver disease.... Details >
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 >
In this page you can find chapters and groups by area in the United State.... Details >
This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
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 >
This page provides a link to each state medical clinic that provides assistance for parents with children affected by Down Syndrome.... Details >
This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >
This site is designed as a place to share stories about the children and young adults with Cystinosis. ... Details >