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Metadata
ID	DOID:0060404
Name	chromosome 17q12 deletion syndrome
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. https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome
Xrefs	GARD:13297 ICD10CM:Q93.5 MIM:614527 ORDO:261265
Subsets	DO_rare_slim
Synonyms	17q12 microdeletion syndrome [EXACT]
Parent Relationships	is_a chromosomal deletion syndrome is_a autosomal dominant disease