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- NF1
- BBS1 : Bardet-Biedl syndrome 1
- IMPA1
- SLC6A3 : solute carrier family 6 member 3
- DLGAP2
- FMR1 : fragile X messenger ribonucleoprotein 1
- WBSCR16
- Neurofibromatosis Type 1 (NF1)
- DiGeorge Syndrome
- Noonan Syndrome
- Bardet-Biedl Syndrome
- Holoprosencephaly
- Russell-Silver Syndrome
- Shprintzen-Goldberg Syndrome
- Sturge-Weber Syndrome
- Sanfilippo Syndrome (MPS III)
- Septo-Optic Dysplasia (SOD)
- Velocardiofacial Syndrome (VCFS)