Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene