Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 76 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene