Details for Combination OLI433

VARIANTS EHMT1:c.1513G>A, p.Gly505Ser in Heterozygous form; MFSD8:c.353A>G, p.Asn118Ser in Heterozygous form
GENE COMBINATION EHMT1; MFSD8
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 32722525
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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