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oromandibular-limb hypogenesis syndrome

Disease Summary
Associated Targets ()

Mondo Description Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).
Mondo Term and Equivalent IDs
MONDO:0017139:  oromandibular-limb hypogenesis syndrome
GARD:0004116: 
Orphanet:2749: 
UMLS:CN202556: