605724.1

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Country

Lebanon

HPO Terms

Pancytopenia; Hypothyroidism; Intellectual disability; Multiple cafe-au-lait spots; Ectopic kidney; Multiple lineage myelodysplasia; Acute lymphoblastic leukemia; Astrocytoma
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000059.4:c.7625C>T2
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.