Gene: [14q2/CRG] CHARGE association (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies);

COM

North-1995 described a 4.5-year-old girl with CHARGE association who had a de novo inverted duplication (14)(q22-q24)."

REF

ABR,LOC "North KN &: Am J Med Genet, 57, N4, 610-614, 1995

CLA

unknown, basic

LOC

14 q22-24

MIM

MIM: 214800

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