chromosome 17q12 deletion syndrome (DOID:0060404)
Alliance: disease page
Synonyms: 17q12 microdeletion syndrome
Alt IDs: OMIM:614527, ICD10CM:Q93.5, ORDO:261265
Definition: 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.