Megalanecephaly polymicrogyria-polydactyly hydrocephalus syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome C1863924 CCND2 Causal Pathogenic evidence from ClinVar 24705253, 29642246 ClinVar
AKT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22729224 -
PIK3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22729224 -
PIK3R2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22729224, 26520804 -
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 C4014742 CCND2 Causal Pathogenic evidence from ClinVar 24705253 ClinVar
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 83473 CCND2 Causal Pathogenic evidence from ClinVar - ClinVar
AKT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIK3R2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -