Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018668.4:c.403+1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208085.1.1 | Palestine | Renal Fanconi syndrome; Reduced number of intrahepatic bile ducts; Failure to thrive; Skeletal muscle atrophy | Unknown | Yes | Patient from pedigree '24' in the publication | |
| 208085.1.3 | Palestine | Renal Fanconi syndrome; Nephrogenic diabetes insipidus; Neonatal cholestatic liver disease; Arthrogryposis multiplex congenita; Failure to thrive; Diarrhea | Unknown | Yes | Relative of 208085.1.1 |