Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 59 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 59 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 59 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 59 | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 59 | |
Click to view in NCBI Gene