Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | DPH5-related diphthamide-deficiency syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | DPH5-related diphthamide-deficiency syndrome +1 more | |
| | DPH5, SLC30A7 (H260R +1 more) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene