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    About the Ectodermal Dysplasia Syndromes: Frequently Asked Questions   External Links Disclaimer Logo
    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 >
    National Foundation for Ectodermal Dysplasias
    Achromatopsia Network   External Links Disclaimer Logo
    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 >
    Achromatopsia Network
    Alpha-1-antitrypsin Deficiency - A Simplified Description  External Links Disclaimer Logo
    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 >
    Alpha1 Association
    Basic Facts about Von Hippel-Lindau (VHL)  External Links Disclaimer Logo
    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 >
    VHL (Von Hippel-Lindau) Family Alliance
    Chapters and Groups: United Mitochondrial Disease Foundation  External Links Disclaimer Logo
    In this page you can find chapters and groups by area in the United State.... Details >
    The United Mitochondrial Disease Foundation
    Characteristics of Fragile X Syndrome   External Links Disclaimer Logo
    This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
    National Fragile X Foundation
    Clinical Features of Shwachman-Diamond Syndrome  External Links Disclaimer Logo
    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 >
    Shwachman-Diamond America
    Clinics - National Down Syndrome Congress  External Links Disclaimer Logo
    This page provides a link to each state medical clinic that provides assistance for parents with children affected by Down Syndrome.... Details >
    National Down Syndrome Congress
    Congenital Adrenal Hyperplasia (CAH): The Facts You Need To Know  External Links Disclaimer Logo
    This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >
    National Adrenal Diseases Foundation
    Family Connection: Cystinosis Research Foundation  External Links Disclaimer Logo
    This site is designed as a place to share stories about the children and young adults with Cystinosis. ... Details >
    Cystinosis Research Foundation
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    Genetic and Rare Diseases Information Center
    Ask the GeneticistExternal Links Disclaimer Logo
    Canavan Disease ResearchExternal Links Disclaimer Logo
    Dysautonomia Information NetworkExternal Links Disclaimer Logo
    Hereditary Hemorrhagic Telangiectasia Foundation International, IncorporatedExternal Links Disclaimer Logo
    National Hematologic Diseases Information Service, National Institute of Diabetes and Digestive and Kidney Diseases
    Neurofibromatosis, Inc.External Links Disclaimer Logo
    The United Mitochondrial Disease FoundationExternal Links Disclaimer Logo
    XP Family Support GroupExternal Links Disclaimer Logo

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