Alopecia, neurologic defects, and endocrinopathy syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome | C2677535 | RBM28 | Causal Pathogenic evidence from ClinVar | 18439547, 20231366 | ClinVar |
| ANE syndrome | 157954 | RBM28 | Causal Pathogenic evidence from ClinVar | - | ClinVar |