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Diseases
Genes (737)
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ABHD5
Cerebral Creatine Deficiency
RUNX2
Renpenning's Syndrome
Cleidocranial Dysostosis
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
ABCA4
Stargardt Disease 4
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
PMM2
Pmm2 Deficiency
PDGFRB
Cerebral Creatine Deficiency
Chordoma, Susceptibility To
Primary Familial Brain Calcification
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
MAGEL2
Schaaf-Yang Syndrome
COL18A1
Knobloch Syndrome 1
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
DSG1
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
TBXT
Chordoma, Susceptibility To
GSTZ1
Maleylacetoacetate Isomerase Deficiency
ELOVL4
Stargardt Disease 4