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chromosome 16p12.1 deletion syndrome, 520kb

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.

Synonyms

  • Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
  • chromosome 16p12.1 deletion syndrome
  • chromosome 16p12.1 deletion syndrome, 520-KB
  • chromosome 16p12.1 deletion syndrome, type 520kb
  • fragile site 16P12
  • fragile site, Distamycin a type, Rare, fra(16)(p12.1)
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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