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20p13 microdeletion syndrome

Disease Summary
Associated Targets ()

Mondo Description 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Mondo Term and Equivalent IDs
MONDO:0017780:  20p13 microdeletion syndrome
Orphanet:313781: 
UMLS:CN203720: