Details for Combination OLI1576

VARIANTS GLI3:c.2179G>A, p.Gly727Arg in Homozygous form; MAMLD1:c.1793G>A, p.Arg598His in Hemizygous form
GENE COMBINATION GLI3; MAMLD1
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES Syndrome with 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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