1p21.3 microdeletion syndrome

An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways.

SNOMEDCT_US