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ABHD5
- Cerebral Creatine Deficiency
GALT
- Galactose-1-Phosphate Uridylyltransferase Deficiency
- Galactose Epimerase Deficiency
GALE
- Galactose-1-Phosphate Uridylyltransferase Deficiency
- Galactose Epimerase Deficiency
ND4
- Deafness, Sensorineural, Autosomal-Mitochondrial Type
- Leber Optic Atrophy, Susceptibility To
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
- Osteogenic Sarcoma
ND6
- Leber Optic Atrophy, Susceptibility To
TP53
- Leber Optic Atrophy, Susceptibility To
- Alopecia, Androgenetic, 1
- Myotonic Dystrophy
- Osteogenic Sarcoma
GAMT
- Guanidinoacetate Methyltransferase Deficiency
TTPA
- Familial Isolated Vitamin E Deficiency
HSF4
- Cataract 5, Multiple Types
ND1
- Leber Optic Atrophy, Susceptibility To
- Osteogenic Sarcoma
SLC2A10
- Arterial Tortuosity Syndrome
PQBP1
- Osteogenic Sarcoma
- Renpenning's Syndrome
ND5
- Leber Optic Atrophy, Susceptibility To
ATP6
- Leber Optic Atrophy, Susceptibility To
- Osteogenic Sarcoma
TTR
- Cerebral Creatine Deficiency
- Familial Amyloid Neuropathy
- Osteogenic Sarcoma
PRPS1
- Arts Syndrome
GALK1
- Galactose-1-Phosphate Uridylyltransferase Deficiency
- Galactose Epimerase Deficiency
ND4L
- Leber Optic Atrophy, Susceptibility To
CYTB
- Leber Optic Atrophy, Susceptibility To