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cataract-aberrant oral frenula-growth delay syndrome

Disease Summary
Associated Targets ()

Mondo Description Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
Mondo Term and Equivalent IDs
MONDO:0007277:  cataract-aberrant oral frenula-growth delay syndrome
GARD:0005554: 
MESH:C536691: 
Orphanet:1373: 
SCTID:715988005: