Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 105 with hypopituitarism | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 105 with hypopituitarism | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy 105 with hypopituitarism | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 105 with hypopituitarism | |
Click to view in NCBI Gene