DISEASES

Disease-gene associations mined from literature

Human genes for chromosome 2p16.1-p15 deletion syndrome

Chromosome 2p16.1-p15 deletion syndrome [DOID:0060415]

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.

Synonyms:  chromosome 2p16.1-p15 deletion syndrome,  chromosome 2p161p15 deletion syndrome,  chromosome 2p16.1-p15 deletion disease,  chromosome 2p16.1-p15 deletion disorder,  DOID:0060415 ...