rs121909219, PTEN

N. diseases: 25
Disease: Macrocephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
0.010 GeneticVariation BEFREE From reported phenotypic data concerning CD patients from five different families who had the R233X mutation, it may be suggested that R233X mutation correlates with macrocephaly. 10920277 2000