| 1 | FIBP, ORDMR |
| A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. | |
| Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L. | |
| Am J Med Genet A 170(8):2111-8. doi: 10.1002/ajmg.a.37741. Epub 2016 May 17. Review. 2016 | |
| 2 | FIBP, ORDMR |
| Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. | |
| Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Rivière JB, Faivre L. | |
| Clin Genet 89(5):e1-4. doi: 10.1111/cge.12704. Epub 2016 Jan 20. 2016 | |