| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 1 |
c.2308G>A
| p.Asp770Asn | Exon 18 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| > 12 years |
|
2
| 1 |
c.670delC
| p.Ile225LeufsX11 | Exon 6 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| >15 years |
|
3
| >1 |
c.2410insA
| p.Ile804AsnfsX14 | Exon 18 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Index case: >2 yrs |
|
4
| 1 |
c.25T>A
| p.Trp9Arg | Exon 1 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| > 3 yrs |
|
5
| 2 |
c.1417C>T
| p.Arg473Cys | Exon 12 |
Hydrocephalus, Mental retardation, Spastic paraplegia
| index case: > 10 yrs |
|
6
| 1 |
c2470_2474del
| p.Asn825LysfsX63 | Exon 19 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus
| > 3 months |
|
7
| 4 |
c.929A>G
| p.Tyr310Cys | Exon 8 |
(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation, Spastic paraplegia
| index case:> 54 yrs |