Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS | AMMECR1 | Causal | CTD ClinVar Disgenet GWAS catalog HPO | ||
| MIDFACE HYPOPLASIA-HEARING IMPAIRMENT-ELLIPTOCYTOSIS-NEPHROCALCINOSIS SYNDROME | AMMECR1 | Unknown | Orphanet |