: MeSH: CHARGE Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > CHARGE Syndrome

Eye Diseases > Eye Abnormalities > Coloboma > CHARGE Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Eye Abnormalities > Coloboma > CHARGE Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Coloboma > CHARGE Syndrome

Eye Diseases > Eye Diseases, Hereditary > Coloboma > CHARGE Syndrome

CHARGE Syndrome

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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.

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

http://data.loterre.fr/ark:/67375/JVR-WM2FJC02-H

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