Pharos: chromosome 16p12.1 deletion syndrome, 520kb (undefined associated targets)

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Disease Summary

Associated Targets ()

Mondo Description

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

Mondo Term and Equivalent IDs

MONDO:0007631: chromosome 16p12.1 deletion syndrome, 520kb

DOID:0060399: chromosome 16p12.1 deletion syndrome, 520kb

MESH:C565001:

NCIT:C129875:

OMIM:136570: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB