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distal 16p11.2 microdeletion syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
Mondo Term and Equivalent IDs
MONDO:0013267:  distal 16p11.2 microdeletion syndrome
Orphanet:261222: 
SCTID:733521003: 
UMLS:C3150701: 
UMLS:C4518824: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found