CHARGE Syndrome

CHARGE-syndrom

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