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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

OMIM:614527

ORDO:261265

Subsets

DO_rare_slim

Synonyms

17q12 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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