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Metadata
ID DOID:0060405
Name chromosome 17q23.1-q23.2 deletion syndrome
Definition A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
https://pubmed.ncbi.nlm.nih.gov/20598276
Xrefs

GARD:10936

ICD10CM:Q93.5

OMIM:613355

ORDO:261279

Subsets

DO_rare_slim

Synonyms

17q23.1-q23.2 microdeletion syndrome [EXACT]

17q23.1q23.2 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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