CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. CHARGE syndrome is most often caused by...

Fragile X Syndrome

Other Names: Marker X syndrome; Martin-Bell syndrome; FRAXA syndrome; Fra(X) syndrome; FXS; X-linked mental retardation and macroorchidism Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and...

22q11.2 Deletion Syndrome

Other Names: Chromosome 22q11.2 deletion syndrome; Velocardiofacial syndrome; VCFS; DiGeorge syndrome; Shprintzen syndrome; Sedlackova syndrome; CATCH22; Autosomal dominant Opitz G/BBB syndrome; Conotruncal anomaly face syndrome; Cayler cardiofacial syndrome. 22q11.2...
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