| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 3 |
c.1765T>C
| p.Tyr589His | Exon 14 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus
| Index case: stillborn. 3/3 mutation found. Terminated pregnancies |