| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 3 |
c.807-6G>A
| p.Phe269LeufsX39 | Intron 7 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| |
|
2
| 2 |
c.1316_1330del15
| p.Val439_443Thrdel | Exon 11 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Death <1 yr. Fam H15 |
|
3
| 2 |
c.2262G>A
| p.Trp754X | Exon 18 |
Hydrocephalus, ?
| Death < 1 yr 2/2 |
|
4
| 4 |
c.1672C>T
| p.Arg558X | Exon 13 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Death < 1 yr: 1/4 |
|
5
| 5 |
c.2351A>G
| p.Tyr784Cys | Exon 18 |
Adducted thumbs, Hydrocephalus, ?
| Death < 1 yr: 5/5 |
|
6
| 2 |
c.551G>A
| p.Arg184Gln | Exon 6 |
Adducted thumbs, Hydrocephalus, ?
| Death < 1 yr: 1/2 |
|
7
| 4 |
c.2374delinsGG
| p.Asn792GlyfsX26 | Exon 18 |
(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation, Spastic paraplegia
| Death < 1 yr: 4/4 |
|
8
| 2 |
c.2701C>T
| p.Arg901X | Exon 20 |
Adducted thumbs, Hydrocephalus
| Death < 1 yr: 1/2 |
|
9
| 4 |
c.2805_2843del39
| p.Leu936_Leu948del | Exon 21 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Death < 1 yr: 2/4 |
|
10
| 2 |
c.3322+2T>C
| p.? | Intron 24 |
Adducted thumbs, Hydrocephalus, ?
| Death < 1 yr: 1/2 |