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ABHD5
- Cerebral Creatine Deficiency
SALL4
- Duane-Radial Ray Syndrome
GAMT
- Guanidinoacetate Methyltransferase Deficiency
GJA1
- Oculodentodigital Dysplasia
COL6A1
- Bethlem Myopathy
TTPA
- Familial Isolated Vitamin E Deficiency
- Malaria, Susceptibility To
FMR1
- Disinhibition
- Renpenning's Syndrome
- Fragile X-Associated Tremor/ataxia Syndrome
MMUT
- Methylmalonyl-Coa Mutase Deficiency
RECQL4
- Baller–gerold Syndrome
- Malaria, Susceptibility To
SLC17A5
- Salla Disease
COL6A3
- Bethlem Myopathy
COL6A2
- Bethlem Myopathy
PQBP1
- Renpenning's Syndrome
IFIH1
- Singleton Merten Syndrome
- Malaria, Susceptibility To
IFNG
- Cerebral Creatine Deficiency
- Salla Disease
- Type Iii Hypersensitivity
- Malaria, Susceptibility To
- Vascular Tumor
COL12A1
- Bethlem Myopathy
ICAM1
- Malaria, Susceptibility To
FCGR2B
- Malaria, Susceptibility To
HBB
- Malaria, Susceptibility To
SRD5A2
- Alopecia, Androgenetic, 1