Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015909.3:c.409C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616483.1.1 | Lebanon | Fatal liver failure in infancy ; Hepatosplenomegaly ; Recurrent fractures ; Global developmental delay ; Axial hypotonia ; Abnormal facial shape ; Hirsutism | Male | Yes | Yes | |
| 616483.1.3 | Lebanon | Fatal liver failure in infancy ; Hepatosplenomegaly ; Recurrent fractures ; Global developmental delay ; Axial hypotonia ; Abnormal facial shape ; Hirsutism | Male | Yes | Yes | Brother of 616483.1.1 |
| 616483.1.4 | Lebanon | Male | Yes | Unaffected father of of 616483.1.1 | ||
| 616483.1.5 | Lebanon | Female | Yes | Unaffected mother of of 616483.1.1 |