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9p13 microdeletion syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
Mondo Term and Equivalent IDs
MONDO:0017928:  9p13 microdeletion syndrome
Orphanet:324313: 
SCTID:764725008: 
UMLS:CN204067: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found