rs569371758, NALCN

N. diseases: 1
Disease: Profound Mental Retardation ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Profound Mental Retardation
CUI: C0020796
Disease: Profound Mental Retardation
0.010 GeneticVariation BEFREE Here, we present a 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. 29968795 2018