Details for Combination OLI481

VARIANTS CACNA1C: in Heterozygous form; CDKL5: in Hemizygous form
GENE COMBINATION CACNA1C; CDKL5
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 21624971
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00
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