619055.11.4

Country

Lebanon

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001171155.2:c.3G>C1NA

Remarks

Mother of proband ('Family B' in the publication)

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619055.11.1LebanonSeizure; Global developmental delay; Failure to thrive; Hypotonia; Increased serum lactate; Respiratory insufficiencyFemaleYesYesProband from 'Family B' in the publication, died at the age of 15 months
619055.11.2LebanonGlobal developmental delay; Failure to thrive; Hypotonia; Recurrent upper respiratory tract infections; Increased serum lactate; Metabolic acidosisMaleYesYesBrother of proband ('Family B' in the publication), died at the age of 8 months
619055.11.3LebanonMaleFather of proband ('Family B' in the publication)
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