| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | KIDINS220 (P1057T +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KIDINS220 (I1307fs +6 more) | Duplication (frameshift variant +1 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | | Single nucleotide variant (missense variant +1 more) | Ventriculomegaly and arthrogryposis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KIDINS220 (S1397C +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | | Single nucleotide variant (missense variant +1 more) | Ventriculomegaly and arthrogryposis +1 more | |
| | KIDINS220 (L1518P +6 more) | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | KIDINS220 (H1531R +6 more) | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | KIDINS220 (R1149fs +1 more) | Duplication (frameshift variant +2 more) | not provided | |
| | KIDINS220 (L1332fs +6 more) | Deletion (frameshift variant +1 more) | not provided | |
| | KIDINS220 (S1220P +6 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | KIDINS220 (E1233* +6 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |