ECEL1, endothelin converting enzyme like 1, 9427

N. diseases: 60; N. variants: 21
Disease: Synkinesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234362
Disease: Synkinesis
Synkinesis 		0.010 GeneticVariation phenotype BEFREE Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis) in the context of arthrogryposisis, that is, with the ECEL1-related ophthalmic phenotype being a form of CCDD. 25173900 2014