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CHARGE syndrome
- CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several ... major and minor characteristics.The major characteristics of CHARGE syndrome are common in this disorder and occur less ...
- ... Marangi G, Garavelli L, Zollino M, Zackai EH. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt ...
- ... protein regulates. Mutations in the CHD7 gene cause CHARGE syndrome, a disorder that affects many areas of the ... abnormality. More than 600 mutations that can cause CHARGE syndrome have been identified, and they occur throughout the ...
- ... NEDBEH resemble those of another condition known as CHARGE syndrome; however, people with NEDBEH do not have changes in the gene associated with CHARGE syndrome. NEDBEH is a rare disorder with unknown prevalence. ...
- Congenital Heart Defects (National Library of Medicine)What are congenital heart defects? Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems ...
- Hearing Problems in Children (National Library of Medicine)Most children hear and listen from the moment they are born. They learn to talk by imitating the sounds around them and the voices of their parents and caregivers. ...
- ... For example, approximately 10 percent of people with CHARGE syndrome, which is usually caused by mutations in the ...
- Facts about Coloboma (National Eye Institute)Eye Diseases/Specifics ... Eye Diseases ... National Eye Institute ... From the National Institutes of Health ... Coloboma is a condition where some tissue is missing in ...
- DiGeorge Syndrome (DGS) (American Academy of Allergy, Asthma, and Immunology)Immune System and Disorders/Specifics ... Immune System and Disorders ... American Academy of Allergy, Asthma, and Immunology ... An overview of DiGeorge Syndrome (DGS) ...
- Sturge-Weber Syndrome (Nemours Foundation)Sturge-Weber, birthmark, birth mark, birthmark on the face, port wine, port-wine, stains, port wine stains, port-wine-stains, port wine birthmark, angioma, ...