| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 1 |
c.(?_-145)_76+?del
| p.0 | Exon 1 |
Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia
| HSAS with Nephrogenic Diabetes Insipidus. Died at age of 89 days. |