212140.2.1

Country

Lebanon

HPO Terms

Congestive heart failure; Pneumonia; Failure to thrive; Decreased plasma carnitine
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003060.3:c.538C>T2NA

Remarks

Patient 'B II-2' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
212140.2.2LebanonMaleNoNoFather of 212140.2.1
212140.2.3LebanonFemaleNoNoMother of 212140.2.1
212140.2.4LebanonMaleYesNoBrother of 212140.2.1
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