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ABHD5
- Cerebral Creatine Deficiency
ATRX
- Alpha-Thalassemia Mental Retardation Syndrome
PROM1
- Stargardt Disease 4
- Cone-Rod Dystrophy 12
ABCA4
- Stargardt Disease 4
MYO5B
- Microvillus Inclusion Disease
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
ZNF335
- Microcephaly 10, Primary, Autosomal Recessive
MC2R
- Familial Glucocorticoid Deficiency
TBXT
- Chordoma, Susceptibility To
GSTZ1
- Maleylacetoacetate Isomerase Deficiency
ELOVL4
- Stargardt Disease 4
STX3
- Microvillus Inclusion Disease
SCN4B
- Long Qt Syndrome 13