| 1 | CCND2, MPPH3 |
| De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. | |
| Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KP, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J; FORGE Canada Consortium, Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG. | |
| Nat Genet 46(5):510-5. doi: 10.1038/ng.2948. Epub 2014 Apr 6. 2014 | |
| 2 | MCAP, MPPH1, MPPH2, MPPH3 |
| Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. | |
| Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB. | |
| Am J Med Genet A 158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6. 2012 | |