| Family | # Affected relatives | Clinical features | Remarks | Reference |
|
1
| >2 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| In this family: moderate to severe MR; severe prenatal hydrocephalus to minimal dilation of the lateral ventricles. |
Van Camp et al. (1993), Willems et al. (1987)
|