618416.12

Country

Saudi Arabia

HPO Terms

Ataxia; Lactic acidosis

Subject Variants

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
618416.1Saudi ArabiaMitochondrial myopathy; Muscle weakness; Lactic acidosis; Motor delay; Dysarthria; Ragged-red muscle fibersMaleYes
618416.2Saudi ArabiaKetosis; Lactic acidosisFemaleYes
618416.3Saudi ArabiaKetosis; Lactic acidosis; Metabolic ketoacidosisFemaleYesYes
618416.4Saudi ArabiaKetosis; Metabolic ketoacidosisFemaleNoYes
618416.5Saudi ArabiaLactic acidosis; Muscle weakness; Spasticity; Intellectual disability; Motor delayMaleYes
618416.6Saudi ArabiaIntellectual disability; Spastic hemiparesis; DysarthriaFemaleNoYes
618416.7Saudi ArabiaLactic acidosis; Abnormal cerebral white matter morphologyFemaleYesNo
618416.8Saudi ArabiaLactic acidosis; Ataxia; ChoreaFemaleYesNo
618416.9Saudi ArabiaLactic acidosis; Motor delay; Delayed speech and language development; Intellectual disability; Dystonia; Hypotonia; Seizure; Intrauterine growth retardationFemaleYesYes
618416.10Saudi ArabiaDevelopmental regression; Hypotonia; Abnormal basal ganglia morphologyMale
618416.11Saudi ArabiaSpastic gait; Thin corpus callosumMale
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