Mega corpus callosum syndrome with cerebellar hyoplasia and cortical malformations
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS | C4748927 | MAST1 | Causal Pathogenic evidence from ClinVar | 27479843, 30449657 | ClinVar |
| HOOK2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |