rs786201003, NALCN

N. diseases: 3
Disease: Arthrogryposis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
0.010 GeneticVariation BEFREE Here, we report a de novo heterozygous mutation in NALCN affecting a conserved residue (p.R1181Q) in a girl with ID, episodic and persistent ataxia, and arthrogryposis. 25864427 2015