Almost all people with this syndrome have some degree of mental retardation and facial dysmorphism (round face, deep-set eyes, thin upper lip). Behavioural problems are common. Brachymetaphalangism (metacarpal or metatarsal shortening) is reported in ~50% of cases overall, but is typically not evident below the age of 2 years. There is striking phenotypic variability, and the size and extent of the deleted region cannot be used as accurate predictors of prognosis. Some patients have additional problems such as congenital heart disease and seizures.
2q37 monosomy
Chromosome 15q partial deletion
Xp11.2 duplication
Tetrasomy 18p
Chromosome 15q trisomy
Distal trisomy 10q
Chromosome 2q deletion
Partial monosomy 13q