Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024996.5:c.521A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609060.1.1 | Lebanon | Metabolic acidosis; Fatal liver failure in infancy; Cholestasis; Hepatic necrosis; Hypoplasia of the corpus callosum; Basal ganglia cysts; | Female | Yes | Yes | |
| 609060.1.2 | Lebanon | Metabolic acidosis; Fatal liver failure in infancy; Global brain atrophy; Hypoplasia of the corpus callosum; Hypertonia; | Male | Yes | Yes | Brother of 609060.1.1 |
| 609060.1.3 | Lebanon | Female | Mother of 609060.1.1 and 609060.1.2 |