Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | Pitt-Hopkins syndrome +7 more | |
| | | Translocation | Oligohydramnios +29 more | |
| | | Translocation | Feeding difficulties in infancy +2 more | |
Click to view in NCBI Gene