DOID:0060225 - 3MC syndrome
Disease Ontology Definition: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.
Synonyms: craniofacial-ulnar-renal syndrome, oculopalatoskeletal syndrome
|OMIM:265050 - 3MC SYNDROME 2; 3MC2|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : colec11, masp1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): syndrome (is_a)