| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| >2 |
c.3543-?_(*731+25)
| p.Gly1123ValfsX76 | Exon 28 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| In this family: moderate to severe MR; severe prenatal hydrocephalus to minimal dilation of the lateral ventricles. |