Hydranencephaly with renal aplasia-dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hydranencephaly with Renal Aplasia-Dysplasia | C1856053 | CEP55 | Causal Pathogenic evidence from ClinVar | 28264986, 30622327 | ClinVar |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 500135 | CEP55 | Causal Pathogenic evidence from ClinVar | - | ClinVar |