612138.1.1

Country

Lebanon

HPO Terms

Abnormal blistering of the skin; Aplasia cutis congenita on trunk or limbs; Neonatal death
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000445.5:c.913C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612138.1.2LebanonFemaleNoYesMother of 612138.1.1
612138.1.3LebanonMaleNoYesFather of 612138.1.1
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