238600.4.5

Country

Morocco

HPO Terms

Decreased circulating lipoprotein lipase concentration
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000237.3:c.858T>A1NA

Remarks

Sister of 238600.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
238600.4.1MoroccoAcute pancreatitisFemaleNoYesProband 2 from Family 2 in the publication, died at age 7
238600.4.2MoroccoDecreased circulating lipoprotein lipase concentrationMaleYesFather of 238600.4.1
238600.4.3MoroccoHypertriglyceridemia; Decreased HDL cholesterol concentration; Decreased circulating lipoprotein lipase concentration;FemaleYesMother of 238600.4.1
238600.4.4MoroccoDecreased circulating lipoprotein lipase concentrationMaleYesYesBrother of 238600.4.1
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