Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015160.3:c.1129G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 213200.4.1 | Lebanon | Neurodevelopmental delay; Failure to thrive; Optic atrophy; Generalized hypotonia; Lactic acidosis; Cerebellar atrophy | Female | Yes | No | |
| 213200.4.2 | Lebanon | Neurodevelopmental delay; Failure to thrive; Optic atrophy; Generalized hypotonia; Lactic acidosis; Cerebellar atrophy; Left ventricular noncompaction cardiomyopathy; Fatal liver failure in infancy | Male | Yes | No | First cousin of 213200.4.1 |
| 213200.4.3 | Lebanon | Female | Mother of 213200.4.1 |