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.
Also Known As:
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Hall-Hittner Syndrome; CHARGE Associations; CHARGE Syndrome, Familial; CHARGE Syndromes; CHARGE Syndromes, Familial; Familial CHARGE Syndromes; Hall Hittner Syndrome; CHARGE Association; Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Familial CHARGE Syndrome