DISEASES

Disease-gene associations mined from literature

Human genes for chromosome 17q12 deletion syndrome

Chromosome 17q12 deletion syndrome [DOID:0060404]

A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.

Synonyms:  chromosome 17q12 deletion syndrome,  chromosome 17q12 deletion disease,  chromosome 17q12 deletion disorder,  DOID:0060404,  17q12 microdeletion syndrome ...