Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Feeding difficulties +3 more | |
| | LOC130060199, LOC130060200
+14 more | Deletion (genic upstream transcript variant) | Intellectual disability +29 more | |
| | LOC101928834, LOC124403918
+3 more | Deletion | Failure to thrive in infancy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Diarrhea 9 +5 more | |
Click to view in NCBI Gene