266130.2.1

Country

Saudi Arabia

HPO Terms

Hemolytic anemia; Metabolic acidosis; Leukopenia; Intellectual disability, mild
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000178.4:c.847C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
266130.2.2Saudi ArabiaHemolytic anemia; Metabolic acidosisMaleYesYesBrother of 266130.2.1
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