Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ATP5MF-PTCD1, AZGP1 +127 more | Copy number gain | Isolated Pierre-Robin syndrome +1 more | |
| | | Copy number loss | Abnormality of the kidney +1 more | |
| | | Copy number gain | Transverse facial cleft +3 more | |
Click to view in NCBI Gene