MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Disease: Benign congenital hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		0.010 GeneticVariation disease BEFREE Patients with MAGEL2 variants shared several features with PWS, such as neonatal hypotonia, poor suck, and obesity; however, there were also unique features, including arthrogryposis and a failure to acquire meaningful words. 31791363 2019