| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion (frameshift variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Duplication (splice donor variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Deletion | Intellectual disability | |
| | | Deletion (frameshift variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (nonsense) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Variation | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |