Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
17q23.1-q23.2 microdeletion syndrome [EXACT] 17q23.1q23.2 microdeletion syndrome [EXACT] |
Parent Relationships |