The disorder is primarily characterized by growth abnormalities, which range from growth retardation to accelerated growth, intellectual disability, and distinctive malformations of the head and face. Additional abnormalities may involve malformation of the skeleton, spine and neck; fingers and/or toes; genitals (particularly in males); and, in some cases, heart problems.
Chromosome 15q trisomy
Chromosome 15q partial deletion
Chromosome 2q deletion
Chromosome 5q deletion syndrome
2q37 monosomy
Distal trisomy 10q
Y chromosome microdeletion
Chromosomal deletion syndrome