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Diseases
Genes (820)
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ASL
Argininosuccinic Aciduria
SLC6A19
Hartnup Disease
PMM2
Pmm2 Deficiency
Epileptic Encephalopathy, Early Infantile, 60
POLG
Balo Concentric Sclerosis
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
UGT1A1
Bronchopulmonary Dysplasia
Crigler-Najjar Syndrome, Type I
OPA3
Costeff Syndrome
SLC17A5
Salla Disease
MED12
Alpha-Thalassemia Mental Retardation Syndrome
Fg Syndrome
UMOD
Medullary Cystic Kidney Disease
FLNA
Epileptic Encephalopathy, Early Infantile, 60
Intestinal Neuronal Dysplasia
Bronchopulmonary Dysplasia
Fg Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
CDKL5
Epileptic Encephalopathy, Early Infantile, 60
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
CTNS
Cystinosis