Desanto-shinawi syndrome

Disease Term Disease ID Gene Symbol Classification References Source
DESANTO-SHINAWI SYNDROME
616708C4225239MONDO:0018760OMIM:616708
WAC Causal
24726472 25356899 26264232 26757981
CTD ClinGen Disgenet GWAS catalog HPO
DESANTO-SHINAWI SYNDROME DUE TO WAC POINT MUTATION
MONDO:0014741
WAC Causal
26264232 26757981 35018708 31594069 32214004 33387902 34997803
ClinVar GWAS catalog