Chromosome 17q23.1-q23.2 deletion syndrome
MONDO:001323817q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Also known as: 17q23.1q23.2 microdeletion syndrome, Del(17)(q23.1q23.2), chromosome 17q23.1-q23.2 deletion syndrome, chromosome 17q23.1-q23.2 deletion syndrome, isolated cases, monosomy 17q23.1-q23.2, monosomy 17q23.1q23.2
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Disease
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Human disease
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Chromosomal disorder
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Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 17 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 17
(0)
Partial deletion of the long arm of chromosome 17
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Syndrome caused by partial chromosomal deletion
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