Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY | C4310686 | ARCN1 | Causal Pathogenic evidence from ClinVar | 27476655 | ClinVar |