238600.3.1

Country

Morocco

HPO Terms

Hepatosplenomegaly; Eruptive xanthomas; Lipemia retinalis; Hypertriglyceridemia; Recurrent pancreatitis; Abdominal pain; Decreased circulating lipoprotein lipase concentration;

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000237.3:c.858T>A	2	NA	Hyperlipoproteinemia, Type I

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Remarks

Proband 1 from Family 1 in the publication

References

Foubert et al. 1997

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
238600.3.2	Morocco	Hyperlipidemia;	Male		Yes	Father of 238600.3.1
238600.3.3	Morocco		Female		Yes	Mother of 238600.3.1
238600.3.4	Morocco		Female	Yes	Yes	Sister of 238600.3.1
238600.3.5	Morocco		Female	Yes	Yes	Sister of 238600.3.1
238600.3.6	Morocco		Male	Yes	Yes	Brother of 238600.3.1