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Diseases
Genes (429)
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ATRX
Alpha-Thalassemia Mental Retardation Syndrome
ABCA4
Stargardt Disease 4
PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
OPA3
Costeff Syndrome
PQBP1
Renpenning's Syndrome
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
ABCC9
Cantú Syndrome
X-Linked Hypertrichosis
COL2A1
Collagen, Type Ii, Alpha-1
PMM2
Pmm2 Deficiency
B3GLCT
Peters Plus Syndrome
ATP1A3
Autosomal Dominant Optic Atrophy Plus Syndrome
SLC29A3
Histiocytosis-Lymphadenopathy Plus Syndrome
LPL
Hyperlipidemia, Familial Combined, 3
CTC1
Coats Plus Syndrome
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
MAGEL2
Schaaf-Yang Syndrome
HSPA9
Even-Plus Syndrome
PDGFRB
Primary Familial Brain Calcification
ZNF335
Microcephaly 10, Primary, Autosomal Recessive