You are using an outdated browser. Please upgrade your browser to improve your experience.

distal 17p13.1 microdeletion syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
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
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found