| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 1 |
c.2431+2_2431+3delTG
| p.? | Intron 18 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Bilateral duplex kidneys and ureters. > 9 yrs |