5q35.3 deletion (Q101039)

Distal monosomy 5q or deletion 5q35 is defined as a deletion of the terminal part of the long arm of chromosome 5 (5q) including bands 5q35.1 5q35.2 5q35.3., associated with a variable degree of facial dysmorphism, skull malformations, mild to severe developmental delay and cardiac defects.