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ABHD5
- Cerebral Creatine Deficiency
WRN
- Werner Syndrome
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
MAGEL2
- Schaaf-Yang Syndrome
COL2A1
- Collagen, Type Ii, Alpha-1
SNRPN
- Schaaf-Yang Syndrome
PITX3
- Anterior Segment Dysgenesis 1
MC2R
- Familial Glucocorticoid Deficiency
MMP21
- Situs Ambiguus
ACVR2B
- Situs Ambiguus
ZIC3
- Situs Ambiguus
NDN
- Schaaf-Yang Syndrome
XDH
- Hyperuricemia
FOXE3
- Anterior Segment Dysgenesis 1
STX3
- Microvillus Inclusion Disease
NODAL
- Situs Ambiguus
CFAP53
- Situs Ambiguus
LEFTY2
- Situs Ambiguus
HPRT1
- Hyperuricemia