A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the gene. Clinical manifestations include ; ; elfin facies; impaired visuospatial constructive abilities; and transient in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Síndrome de Fácie de Elfo /
Síndrome do Gene Contíguo de Williams /