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Diseases
Genes (730)
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SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
CD55
Protein Losing Enteropathy
CDKL5
Epileptic Encephalopathy, Early Infantile, 60
ARX
Epileptic Encephalopathy, Early Infantile, 60
STXBP1
Epileptic Encephalopathy, Early Infantile, 60
FGFR2
Hallux Varus
Joint Stiffness
Ankylosis
TSC2
Epileptic Encephalopathy, Early Infantile, 60
SPTAN1
Epileptic Encephalopathy, Early Infantile, 60
SCN2A
Epileptic Encephalopathy, Early Infantile, 60
GRIN2B
Epileptic Encephalopathy, Early Infantile, 60
ST3GAL3
Epileptic Encephalopathy, Early Infantile, 60
FBN1
Hallux Varus
Epileptic Encephalopathy, Early Infantile, 60
Joint Stiffness
Genu Recurvatum
Hammer Toe
CNPY3
Epileptic Encephalopathy, Early Infantile, 60
PLCB1
Epileptic Encephalopathy, Early Infantile, 60
PHACTR1
Epileptic Encephalopathy, Early Infantile, 60
SIK1
Epileptic Encephalopathy, Early Infantile, 60
HSD17B4
Epileptic Encephalopathy, Early Infantile, 60
Hammer Toe
PIGA
Epileptic Encephalopathy, Early Infantile, 60
POMC
Epileptic Encephalopathy, Early Infantile, 60