| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.26G>C
| p.Trp9Ser | Exon 1 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Patient 1: > 6 yrs, patient 2 died at 2 weeks of age |
|
2
| 5 |
c.791G>A
| p.Cys264Tyr | Exon 7 |
Hydrocephalus, ?
| Family H2 in reference. Died before the age of 1yr: 5/5 |
|
3
| 4 |
c.3209A>G
| p.Tyr1070Cys | Exon 24 |
Hydrocephalus, Mental retardation, Spastic paraplegia
| Died before the age of 1 yr: 1/4 |