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Diseases
Genes (777)
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MAGEL2
Schaaf-Yang Syndrome
Schaaf-Yang Syndrome
SH2D1A
Lymphoproliferative Syndrome, X-Linked, 2
ABHD5
Neutral Lipid Storage Disease
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Schaaf-Yang Syndrome
ABCA4
Stargardt Disease 4
PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
PQBP1
Renpenning's Syndrome
PMM2
Pmm2 Deficiency
SNRPN
Schaaf-Yang Syndrome
FLNB
Atelosteogenesis, Type I
GALE
Galactose Epimerase Deficiency
HLCS
Holocarboxylase Synthetase Deficiency
TNFAIP3
Haploinsufficiency Of A20
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Neutral Lipid Storage Disease
Primary Familial Brain Calcification
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
FARS2
Spastic Paraplegia 77, Autosomal Recessive
NDN
Schaaf-Yang Syndrome
CFH
Stargardt Disease 4
Membranoproliferative Glomerulonephritis