Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | C4693578 | CTBP1 | Causal Pathogenic evidence from ClinVar | 27094857, 29291004, 31041561 | ClinVar |
| CTBP1-AS | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |