Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000018.4:c.711_712del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 201475.1.1 | Lebanon | Tachypnea ; Metabolic acidosis ; Hepatomegaly ; Ventricular hypertrophy | Male | Yes | Yes | The patient had two sisters who died early in life. |
| 201475.1.2 | Lebanon | Male | Yes | Unaffected father of 201475.1.1 |