CHARGE Syndrome
MESHD058747
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.
Synonyms
- 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
Source last updated 2026-05-24T15:24:32.107Z