Disease Term Disease ID Gene Symbol References
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome C1863924 CCND2 24705253, 29642246
PIK3CA 22729224
PIK3R2 26520804, 22729224
AKT3 22729224
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 C4014742 CCND2 24705253
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 83473 PIK3R2
CCND2
AKT3