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Diseases
Genes (1022)
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MAGEL2
Schaaf-Yang Syndrome
Schaaf-Yang Syndrome
GALE
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
GALT
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
SH2D1A
Lymphoproliferative Syndrome, X-Linked, 2
ATRX
Neurofibroma
Alpha-Thalassemia Mental Retardation Syndrome
ABHD5
Neutral Lipid Storage Disease
SLC7A9
Cystinuria
SLC3A1
Cystinuria
ABCA4
Stargardt Disease 4
FMR1
Renpenning's Syndrome
Schaaf-Yang Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
PMM2
Pmm2 Deficiency
SNRPN
Schaaf-Yang Syndrome
GALK1
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
SLC26A4
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
PDGFRB
Neurofibroma
Neutral Lipid Storage Disease
Primary Familial Brain Calcification
SLC20A2
Primary Familial Brain Calcification
FOXI1
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
KCNJ10
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct