| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.88delC
| p.His30MetfsX2 | Exon 2 |
(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia
| > 5 years old |