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- PMM2 : phosphomannomutase 2
- FUCA1 : alpha-L-fucosidase 1
- PIGT : phosphatidylinositol glycan anchor biosynthesis class T
- SBDS : SBDS ribosome maturation factor
- POLR1C : RNA polymerase I and III subunit C
- ARID1B : AT-rich interaction domain 1B
- BMP10
- CHD3 : chromodomain helicase DNA binding protein 3
- FBN2 : fibrillin 2
- FBN3
- GHDC
- LBX2
- MAN2A2
- MYH9 : myosin heavy chain 9
- TBX4
- Mucopolysaccharidosis (MPS)
- Wiedemann-Rautenstrauch Syndrome
- Vici Syndrome
- Smith-Magenis Syndrome
- Shwachman-Diamond Syndrome