CHARGE Syndrome


Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

CHARGE Syndromes Syndrome, CHARGE Hall-Hittner Syndrome Hall Hittner Syndrome Syndrome, Hall-Hittner CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies CHARGE Association Association, CHARGE Associations, CHARGE CHARGE Associations Familial CHARGE Syndrome CHARGE Syndrome, Familial CHARGE Syndromes, Familial Familial CHARGE Syndromes