Distal 7q11.23 microdeletion syndrome
MONDO:0013393Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Also known as: chromosome 7q11.23 deletion syndrome, distal, 1.2mb, distal del(7)(q11.23), distal monosomy 7q11.23, chromosome 7q11.23 deletion syndrome, distal, 1.2-MB, distal chromosome 7Q11.23 deletion syndrome
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
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Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 7 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 7
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Partial deletion of the long arm of chromosome 7
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Syndrome caused by partial chromosomal deletion
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