rs114638163, MIPEP

N. diseases: 10
Disease: Infantile muscular hypotonia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064 2016