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CHARGE syndrome

en.wikipedia.org/wiki/CHARGE_syndrome

CHARGE syndrome is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with ...

Overview | Charge Syndrome Foundation

www.chargesyndrome.org/about-charge/overview/

CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and ...

CHARGE Syndrome - NORD (National Organization for Rare ...

rarediseases.org/rare-diseases/charge-syndrome/

CHARGE syndrome affects multiple organ systems, resulting in multiple problems apparent at birth. Other characteristics of CHARGE syndrome may not become ...

CHARGE syndrome | Orphanet Journal of Rare Diseases | Full Text

ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-34

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and ...

CHARGE syndrome | Great Ormond Street Hospital

www.gosh.nhs.uk/medical-information-0/search-medical-conditions/charge-syndrome

CHARGE syndrome is a condition where a number of symptoms are seen together – the name CHARGE is made from the initials of the main symptoms of the ...

Orphanet: CHARGE syndrome

www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=138

Summary. CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; ...

CHARGE Syndrome - WebMD

www.webmd.com/children/charge-syndrome-10769

Apr 9, 2012 ... Important It is possible that the main title of the report CHARGE Syndrome is not the name you expected. Please check the synonyms listing to ...

CHARGE Syndrome testing | Ambry Genetics

www.ambrygen.com/tests/charge-syndrome-testing

Quick Links to Relevant Resources: Comprehensive Test Requisition Form Specimen Requirements PDF CHARGE syndrome Letter of Medical Necessity.

CHARGE Syndrome - Hypogonadotropic Hypogonadism Gene ...

www.genedx.com/test-catalog/disorders/charge-syndrome/

CHARGE syndrome refers to a specific set of birth defects, including coloboma of the eye, heart defects, choanal atresia, mental and growth retardation and ear ...

CHARGE Syndrome: An Overview | Perkins eLearning

www.perkinselearning.org/videos/webcast/charge-syndrome-overview

Pamela Ryan, School Psychologist at Perkins School for the Blind, offers an overview of CHARGE Syndrome. She talks about CHARGE features, characteristics, ...

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CHARGE syndrome - Genetics Home Reference

ghr.nlm.nih.gov

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal ...

CHARGE Syndrome: Background, Pathophysiology, Epidemiology

emedicine.medscape.com

Apr 5, 2016 ... CHARGE syndrome is an autosomal dominant genetic disorder typically caused by mutations in the chromodomain helicase DNA-binding ...

OMIM Entry - # 214800 - CHARGE SYNDROME

www.omim.org

A number sign (#) is used with this entry because of evidence that CHARGE syndrome is caused by heterozygous mutation in the CHD7 (608892) on ...