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Diseases
Genes (836)
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MAGEL2
Schaaf-Yang Syndrome
Schaaf-Yang Syndrome
ABHD5
Cerebral Creatine Deficiency
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
ABCA4
Stargardt Disease 4
FMR1
Renpenning's Syndrome
Schaaf-Yang Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
PQBP1
Renpenning's Syndrome
SNRPN
Schaaf-Yang Syndrome
PMM2
Pmm2 Deficiency
PDGFRB
Cerebral Creatine Deficiency
Chordoma, Susceptibility To
Primary Familial Brain Calcification
INPP5E
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
FARS2
Spastic Paraplegia 77, Autosomal Recessive
TBXT
Chordoma, Susceptibility To
NDN
Schaaf-Yang Syndrome
GPNMB
Amyloidosis, Primary Localized Cutaneous, 3
GSTZ1
Maleylacetoacetate Isomerase Deficiency