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Diseases
Genes (794)
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CLN6
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
Ceroid Lipofuscinosis, Neuronal, 6
SLC52A3
Brown-Vialetto-Van Laere Syndrome 2
Multiple Acyl-Coa Dehydrogenase Deficiency
Fazio-Londe Disease
TPP1
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
Ceroid Lipofuscinosis, Neuronal, 6
ABHD5
Cerebral Creatine Deficiency
CLN3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
Ceroid Lipofuscinosis, Neuronal, 6
ACADM
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
ACADVL
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
GAMT
Guanidinoacetate Methyltransferase Deficiency
JAG1
Alagille Syndrome 2
SIX1
Branchio-Oto-Renal Syndrome
SLC25A20
Carnitine-Acylcarnitine Translocase Deficiency
Multiple Acyl-Coa Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
ETFDH
Cerebral Creatine Deficiency
Multiple Acyl-Coa Dehydrogenase Deficiency
ABCC9
Cantú Syndrome
ETFA
Cerebral Creatine Deficiency
Multiple Acyl-Coa Dehydrogenase Deficiency
SLC2A10
Arterial Tortuosity Syndrome
EYA1
Branchio-Oto-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
FGFR2
Jackson–weiss Syndrome
RFT1
Congenital Disorder Of Glycosylation, Type In
FGFR1
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Jackson–weiss Syndrome