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chromosome 16p11.2 duplication syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Mondo Term and Equivalent IDs
MONDO:0013847:  chromosome 16p11.2 duplication syndrome
GARD:0012388: 
Orphanet:370079: 
SCTID:765142003: 
UMLS:C3553407: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found