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ASL
- Argininosuccinic Aciduria
TTPA
- Familial Isolated Vitamin E Deficiency
PMM2
- Pmm2 Deficiency
NIPBL
- Cornelia De Lange Syndrome 3
SLC12A6
- Andermann Syndrome
PQBP1
- Renpenning's Syndrome
MED12
- Fg Syndrome
SLC17A5
- Salla Disease
FAM20A
- Enamel-Renal Syndrome
NGLY1
- Ngly1 Deficiency
UBE3B
- Kaufman Oculocerebrofacial Syndrome
RAD21
- Cornelia De Lange Syndrome 3
IFIH1
- Singleton Merten Syndrome
ACTG2
- Berdon Syndrome
HDAC8
- Cornelia De Lange Syndrome 3
DMPK
- Myotonic Dystrophy
FLNA
- Intestinal Neuronal Dysplasia
- Fg Syndrome
ASS1
- Argininosuccinic Aciduria
- Citrullinemia Type I
MYH11
- Berdon Syndrome
MYLK
- Berdon Syndrome