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13q12.3 microdeletion syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
Mondo Term and Equivalent IDs
MONDO:0018474:  13q12.3 microdeletion syndrome
Orphanet:412035: 
UMLS:CN237459: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found