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Diseases
Genes (393)
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TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
CDKL5
Epileptic Encephalopathy, Early Infantile, 60
Craniodiaphyseal Dysplasia
CD55
Protein Losing Enteropathy
ASS1
Citrullinemia Type I
ARX
Epileptic Encephalopathy, Early Infantile, 60
STXBP1
Epileptic Encephalopathy, Early Infantile, 60
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
CNPY3
Epileptic Encephalopathy, Early Infantile, 60
PLCB1
Epileptic Encephalopathy, Early Infantile, 60
PHACTR1
Epileptic Encephalopathy, Early Infantile, 60
SIK1
Epileptic Encephalopathy, Early Infantile, 60
SYCP3
Spermatogenesis Arrest
PIGA
Epileptic Encephalopathy, Early Infantile, 60