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Diseases
Genes (372)
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ATRX
Alpha-Thalassemia Mental Retardation Syndrome
POLG
Balo Concentric Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
PRPS1
Arts Syndrome
FAM20A
Enamel-Renal Syndrome
PCDH19
Epilepsy-Intellectual Disability In Females
NFU1
Multiple Mitochondrial Dysfunctions Syndrome
UBA1
X-Linked Spinal Muscular Atrophy Type 2
IFIH1
Singleton Merten Syndrome
ISCU
Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
ASS1
Citrullinemia Type I
GLRB
Hyperekplexia
SLC6A5
Hyperekplexia
RB1
Pinealoblastoma
Trilateral Retinoblastoma
GLRA1
Hyperekplexia
FH
Fumarase Deficiency
DDX58
Singleton Merten Syndrome
PARS2
Balo Concentric Sclerosis
GPHN
Hyperekplexia