Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Intellectual disability, short stature, facial anomalies, and joint dislocations | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, short stature, facial anomalies, and joint dislocations | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, short stature, facial anomalies, and joint dislocations | |
| | | Deletion (frameshift variant) | Intellectual disability, short stature, facial anomalies, and joint dislocations | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, short stature, facial anomalies, and joint dislocations | |
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