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chromosome 8q21.11 deletion syndrome

Disease Summary
Associated Targets ()

Mondo Description 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
Mondo Term and Equivalent IDs
MONDO:0013646:  chromosome 8q21.11 deletion syndrome
Orphanet:284160: 
SCTID:718615003: 
UMLS:C3280231: 
UMLS:C4305343: