Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_178526.5:c.871A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
618416.1 | Saudi Arabia | Mitochondrial myopathy; Muscle weakness; Lactic acidosis; Motor delay; Dysarthria; Ragged-red muscle fibers | Male | Yes | ||
618416.2 | Saudi Arabia | Ketosis; Lactic acidosis | Female | Yes | ||
618416.4 | Saudi Arabia | Ketosis; Metabolic ketoacidosis | Female | No | Yes | |
618416.5 | Saudi Arabia | Lactic acidosis; Muscle weakness; Spasticity; Intellectual disability; Motor delay | Male | Yes | ||
618416.6 | Saudi Arabia | Intellectual disability; Spastic hemiparesis; Dysarthria | Female | No | Yes | |
618416.7 | Saudi Arabia | Lactic acidosis; Abnormal cerebral white matter morphology | Female | Yes | No | |
618416.8 | Saudi Arabia | Lactic acidosis; Ataxia; Chorea | Female | Yes | No | |
618416.9 | Saudi Arabia | Lactic acidosis; Motor delay; Delayed speech and language development; Intellectual disability; Dystonia; Hypotonia; Seizure; Intrauterine growth retardation | Female | Yes | Yes | |
618416.10 | Saudi Arabia | Developmental regression; Hypotonia; Abnormal basal ganglia morphology | Male | |||
618416.11 | Saudi Arabia | Spastic gait; Thin corpus callosum | Male | |||
618416.12 | Saudi Arabia | Ataxia; Lactic acidosis | Male |