615751.2.1

Country

Oman; United Arab Emirates

HPO Terms

Hyperammonemia; Lactic acidosis; Failure to thrive; Microcephaly; Elevated circulating creatine kinase concentration; Severe global developmental delay
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001739.2:c.59G>A2

Remarks

Patient's parents belong to the same tribe

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615751.2.2Oman; United Arab EmiratesHyperammonemia; Lactic acidosis; Failure to thrive; Elevated circulating creatine kinase concentration; Global developmental delayFemaleYesRelative of 615751.2.1
615751.2.3Oman; United Arab EmiratesHyperammonemia; Lactic acidosis; Failure to thriveMaleYesRelative of 615751.2.1
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