| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 1 |
c.52dupC
| p.Leu18ProfsX10 | Exon 1 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation
| Died at the age of 12 yrs. Family HC8 |
|
2
| 3 |
c.581A>G
| p.Tyr194Cys | Exon 6 |
Adducted thumbs, Hydrocephalus
| Brother with HC died at the age of 3 months |
|
3
| 4 |
c.719C>T
| p.Pro240Leu | Exon 7 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Died before the age of 1 yr: 3/4 |
|
4
| 2 |
c.828G>A
| p.Trp276X | Exon 8 |
Hydrocephalus, ?
| Index case >9 yrs. Uncle died two days after birth. Family HC10 |
|
5
| 2 |
c.955delG
| p.Gly319AlafsX71 | Exon 8 |
Hydrocephalus, ?
| |