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intellectual disability, anterior maxillary protrusion, and strabismus

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A syndrome characterized by severe mental retardation, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals.
Mondo Term and Equivalent IDs
MONDO:0013353:  intellectual disability, anterior maxillary protrusion, and strabismus
Orphanet:562559: 
UMLS:C3150924: