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Diseases
Genes (523)
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ASL
Argininosuccinic Aciduria
MYH9
Arterial Tortuosity Syndrome
Myh9-Related Disease
PMM2
Pmm2 Deficiency
Epileptic Encephalopathy, Early Infantile, 60
TNNI2
Sheldon-Hall Syndrome
SLC2A10
Hiatal Hernia
Arterial Tortuosity Syndrome
MYH3
Sheldon-Hall Syndrome
IFIH1
Singleton Merten Syndrome
TPM2
Sheldon-Hall Syndrome
CDKL5
Epileptic Encephalopathy, Early Infantile, 60
ARX
Epileptic Encephalopathy, Early Infantile, 60
STXBP1
Epileptic Encephalopathy, Early Infantile, 60
TNNT3
Sheldon-Hall Syndrome
TSC2
Epileptic Encephalopathy, Early Infantile, 60
SPTAN1
Epileptic Encephalopathy, Early Infantile, 60
SCN2A
Epileptic Encephalopathy, Early Infantile, 60
PHACTR1
Epileptic Encephalopathy, Early Infantile, 60
Fibromuscular Dysplasia
GRIN2B
Epileptic Encephalopathy, Early Infantile, 60
ST3GAL3
Epileptic Encephalopathy, Early Infantile, 60
CNPY3
Epileptic Encephalopathy, Early Infantile, 60
PLCB1
Epileptic Encephalopathy, Early Infantile, 60