| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.466C>G
| p.Ser156X | Exon 5 |
(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation
| Index case died at the age of 12 yrs. Patient 2 died shortly after birth. |
|
2
| 1 |
c.550C>T
| p.Arg184Trp | Exon 6 |
(Dys)agenesis corpus callosum
| |
|
3
| 1 |
c.1224delC
| p.Arg409GlyfsX21 | Exon 10 |
(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation
| |
|
4
| 2 |
c.1340_1353del14
| p.Leu447ArgfsX40 | Exon 11 |
(Dys)agenesis corpus callosum, Hydrocephalus
| Two brothers: >7 yrs and > 5,5 yrs |