203100.1

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Country

Lebanon; Saudi Arabia

HPO Terms

Albinism; Depigmentation/hyperpigmentation of skin; Photophobia; Nystagmus
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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000372.5:c.895C>T1
NM_000372.5:c.1037-1G>A1
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Remarks

Compound heterozygous

References

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