201450.G.1.1

Country

Saudi Arabia

HPO Terms

Abnormal circulating carnitine concentration

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000016.6:c.362C>T36

Remarks

18 patients with MCAD deficiency

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
201450.G.1.2Saudi ArabiaAbnormal circulating carnitine concentrationUnknown2 compound heterozygous patients with MCAD deficiency
Back to search Result
© CAGS 2024. All rights reserved.