| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.2974C>T
| p.Gln992X | Exon 22 |
(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia
| Index case > 14 yrs |
|
2
| 5 |
c.1939+5G>A
| p.? | Intron 15 |
(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia
| Two brothers with HSCR. 1/5 stillborn, 1/5 died at young age 1/5 XLH only |