| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | |
Click to view in NCBI Gene