" /> 2q24 deletion - CISMeF





Preferred Label : 2q24 deletion;

ICD-11 definition : 2q24 microdeletion syndrome is a chromosomal anomaly giving raise to a clinically recognizable syndrome including eye anomalies (coloboma, cataract and microphthalmia), anomalies of hands and feet (flexion deformities) and congenital heart defects.;

ICD-11 synonym : 2q24 deletion syndrome; Monosomy 2q24;

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2q24 microdeletion syndrome is a chromosomal anomaly giving raise to a clinically recognizable syndrome including eye anomalies (coloboma, cataract and microphthalmia), anomalies of hands and feet (flexion deformities) and congenital heart defects.

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28/07/2025


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