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distal 16p11.2 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal 16p11.2 microdeletion syndrome

MONDO:0013267

Also known as:body mass index QTL16chromosome 16p11.2 deletion syndrome, type 220kbdistal del(16)(p11.2)

Overview

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.

GeneticsSporadic (not inherited), Autosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Tall stature, Unilateral renal agenesis, Global developmental delay, and Aganglionic megacolon and 1 more.

Organ System	Phenotype Count	Example Features
Growth and development	1	Tall stature
Kidneys and urinary system

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613444

Orphanet

European rare disease database

Orphanet:261222

GARD

Genetic and Rare Diseases Info Center

GARD:17244

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distal 16p11.2 microdeletion syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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