Details for Combination OLI1299

VARIANTS FEZF1:c.722T>A, p.Ile241Asn in Heterozygous form; WDR11:c.1649T>C, p.Val550Ala in Heterozygous form
GENE COMBINATION FEZF1; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612702; 614840; 612370; 614880; 615266; 614897; 618841; 610628; 147950; 615271; 308700; 616030; 615269; 244200; 615267; 614858; 615270; 614837; 614838
DISEASES Kallmann syndrome
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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