Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS | C4310810 | AMMECR1 | Causal Pathogenic evidence from ClinVar | 27811305, 28089922 | ClinVar |