275350.1.1

Country

Lebanon

HPO Terms

Hypotonia; Failure to thrive; Pancytopenia; Abnormal circulating homocysteine concentration; Methylmalonic aciduria; Megaloblastic bone marrow
Back to search Result
Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
TCN2, 2,152-BP DEL AND 4-BP INS2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
275350.1.2LebanonFemaleMother of 275350.1.1
275350.1.3LebanonMaleFather of 275350.1.1
Back to search Result
© CAGS 2024. All rights reserved.