Human genes for chromosome 16p11.2 deletion syndrome
Chromosome 16p11.2 deletion syndrome [DOID:0060398]
A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.
Synonyms: chromosome 16p11.2 deletion syndrome, chromosome 16p112 deletion syndrome, chromosome 16p11.2 deletion disease, chromosome 16p11.2 deletion disorder, DOID:0060398 ...