|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (Human Disease Ontology, DOID_0060225)|
|Downloads & Tools|
2 genes/proteins associated with the disease Oculopalatoskeletal syndrome from the curated CTD Gene-Disease Associations dataset.