Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Neurodevelopmental disorder with language delay and variable cognitive abnormalities | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
Click to view in NCBI Gene