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- KMT2D : lysine methyltransferase 2D
- ALMS1 : ALMS1 centrosome and basal body associated protein
- PDSS2
- GLE1
- G6PC1
- KHDC3L : KH domain containing 3 like, subcortical maternal complex member
- MVK : mevalonate kinase
- ARSB : arylsulfatase B
- LARS2 : leucyl-tRNA synthetase 2, mitochondrial
- PROP1 : PROP paired-like homeobox 1
- G6PC : glucose-6-phosphatase catalytic subunit
- MAGEL2
- NIPBL : NIPBL cohesin loading factor
- PHEX : phosphate regulating endopeptidase X-linked
- SMC4
- SNORD117
- Sjögren-Larsson Syndrome
- Nijmegen Breakage Syndrome
- Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome)
- Alström Syndrome