300200.G.1

Country

Oman

HPO Terms

Congenital adrenal hypoplasia; Death in infancy ;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000475.4:c.857_862del14

Remarks

Relatives of 300200.2.1 (4 uncles and 3 first cousins, all deceased)
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