614219.3

Country

Arab

HPO Terms

Aplasia cutis congenita; Depressed nasal bridge; Bulbous nose; Single transverse palmar crease
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020812.4:c.2520dup2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614219.1ArabBrachydactyly; Small nailFemaleYes
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