| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 5 |
c.536T>G
| p.Ile179Ser | Exon 6 |
Adducted thumbs, Mental retardation, Spastic paraplegia
| |
|
2
| 19 |
c.1108G>A
| p.Gly370Arg | Exon 9 |
Hydrocephalus, ?
| Family with variable manifestations of clinical symptoms from Hydrocephalus to MASA syndrome |