encyclopedia of medical concepts
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CHARGE Syndrome
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Definition
: Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Other names
CHARGE Syndrome, Familial; CHARGE Associations; Associations, CHARGE; Association, CHARGE; Hall-
Hittner Syndrome; Familial CHARGE Syndrome; CHARGE Association; Syndrome, Hall-
Hittner; Syndrome, CHARGE; Hall Hittner Syndrome; Familial CHARGE Syndromes; CHARGE Syndromes, Familial; CHARGE Syndromes
Substance
CAS Registry & name
Categories
Source
CHD7 protein, human
EC 5.99.-
*DNA Helicases
*DNA-Binding Proteins
Kallmann Syndrome
CHARGE Syndrome.
Nat Genet 2004 Sep;36(9):955-7
