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monosomy 9q22.3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
Mondo Term and Equivalent IDs
MONDO:0019179:  monosomy 9q22.3
MESH:C579873: 
Orphanet:77301: 
SCTID:724098008: 
UMLS:C3711390: