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MED12
- Fg Syndrome
- Alpha-Thalassemia Mental Retardation Syndrome
- Phyllodes Tumor
ASL
- Argininosuccinic Aciduria
ATRX
- Alpha-Thalassemia Mental Retardation Syndrome
FOXP3
- Ipex Syndrome
- Phyllodes Tumor
F12
- Factor Xii Deficiency
PMM2
- Pmm2 Deficiency
PQBP1
- Renpenning's Syndrome
ABCC9
- Cantú Syndrome
PRPS1
- Arts Syndrome
SYNE1
- Emery–dreifuss Muscular Dystrophy
UBA1
- X-Linked Spinal Muscular Atrophy Type 2
GALE
- Galactose Epimerase Deficiency
LMNA
- Emery–dreifuss Muscular Dystrophy
IFIH1
- Singleton Merten Syndrome
KCNJ8
- Cantú Syndrome
FLNA
- Fg Syndrome
- Phyllodes Tumor
- Emery–dreifuss Muscular Dystrophy
DMPK
- Myotonic Dystrophy
SYNE2
- Emery–dreifuss Muscular Dystrophy
BRAF
- Erdheim–chester Disease
- Factor Xii Deficiency
SLC4A4
- Proximal Renal Tubular Acidosis