rs137852520, L1CAM

N. diseases: 4
Disease: MASA SYNDROME (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MASA SYNDROME (disorder)
CUI: C0795953
Disease: MASA SYNDROME (disorder)
0.010 GeneticVariation BEFREE The hemizygous L1CAM variant p.G452R, previously implicated in patients with L1 syndrome, was identified in patient 5, who presented with antenatal hydrocephalus. 31504653 2019