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distal 17p13.1 microdeletion syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Mondo Term and Equivalent IDs
MONDO:0017867:  distal 17p13.1 microdeletion syndrome
Orphanet:319171: 
UMLS:CN203914: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found