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Chromosome 16p12.1 deletion syndrome, 520kb

rare

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

Identifiers
MONDO:0007631 OMIM:136570
Part of
Partial deletion of the short arm of chromosome 16Syndromic disease
Also known as
chromosome 16p12.1 deletion syndrome · chromosome 16p12.1 deletion syndrome, type 520kb · Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)

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