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CHARGE association
- ... of other cases of CHARGE syndrome is unknown. CHARGE association Hall-Hittner syndrome Genetic Testing Registry: CHARGE association CHARGE syndrome Disease InfoSearch National Organization for Rare ...
- Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, ...
- ... 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 ...
- 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) ...
- Endometriosis: General Information (Boston Children's Hospital)Endometriosis/Teenagers ... Endometriosis ... Boston Children's Hospital
(National Eye Institute) 