| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion (splice donor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Duplication | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice donor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Duplication | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion | Congenital cerebellar hypoplasia | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion | X-linked intellectual disability-cerebellar hypoplasia syndrome | |