Proximal 16p11.2 microdeletion syndrome
MONDO:0012756A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
Also known as: autism susceptibility 14A, chromosome 16p11.2 deletion syndrome, 593kb, proximal del(16)(p11.2), proximal monosomy 16p11.2, 16p11.2 deletion syndrome, Del(16)(p11.2), autism, susceptibility to, 14A, chromosome 16p11.2 deletion syndrome
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 16 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 16
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Partial deletion of the short arm of chromosome 16
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Syndrome caused by partial chromosomal deletion
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