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Metadata
ID DOID:0060393
Name chromosome 15q11.2 deletion syndrome
Definition A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
https://www.omim.org/entry/615656
Xrefs

OMIM:615656

ORDO:261183

UMLS_CUI:C3180937

Subsets

DO_rare_slim

Synonyms

15q11.2 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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