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ASL
- Argininosuccinic Aciduria
PMM2
- Pmm2 Deficiency
TTPA
- Familial Isolated Vitamin E Deficiency
POLG
- Balo Concentric Sclerosis
- Merrf Syndrome
ATP7B
- Wilson's Disease
F12
- Factor Xii Deficiency
SLC12A6
- Andermann Syndrome
PQBP1
- Renpenning's Syndrome
MED12
- Fg Syndrome
SLC17A5
- Wilson's Disease
- Salla Disease
FAM20A
- Enamel-Renal Syndrome
UMOD
- Medullary Cystic Kidney Disease
NGLY1
- Ngly1 Deficiency
UBE3B
- Kaufman Oculocerebrofacial Syndrome
IFIH1
- Singleton Merten Syndrome
ACTG2
- Berdon Syndrome
FLNA
- Intestinal Neuronal Dysplasia
- Fg Syndrome
TRNL1
- Merrf Syndrome
TRNP
- Merrf Syndrome
TRNF
- Merrf Syndrome