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 |
---|---|---|---|---|---|---|
208085.1.2 | Palestine | Renal Fanconi syndrome; Failure to thrive | Unknown | Yes | Relative of 208085.1.1 | |
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 |