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Chromosome 17q23.1-q23.2 deletion syndrome
rare17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
- Identifiers
- MONDO:0013238 OMIM:613355Orphanet:261279
- Also known as
- 17q23.1q23.2 microdeletion syndrome · chromosome 17q23.1-q23.2 deletion syndrome, isolated cases · Del(17)(q23.1q23.2) · monosomy 17q23.1-q23.2 · monosomy 17q23.1q23.2
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