Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
1
| 5 |
c.630C>G
| p.His210Gln | Exon 6 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Hydrocephalus 1/5. Died before the age of 1yr:0/5 |
2
| 3 |
c.1792G>A
| p.Asp598Asn | Exon 14 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| |
3
| 7 |
c.3543-?_(*731_?)del
| p.? | Intron 27 |
Adducted thumbs, Mental retardation, Spastic paraplegia
| |