2q23.1 microdeletion syndrome
MONDO:0016459The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
Also known as: Del(2)(q23.1), monosomy 2q23.1, pseudo-Angelman syndrome, chromosome 2q23.1 microdeletion syndrome
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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
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Autosomal anomaly
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Chromosome 2 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 2
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Partial deletion of the long arm of chromosome 2
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Syndrome caused by partial chromosomal deletion
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