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300200.G.1
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Subject Details
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 Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000475.4:c.857_862del
14
Adrenal Hypoplasia, Congenital
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Remarks
Relatives of 300200.2.1 (4 uncles and 3 first cousins, all deceased)
References
Walker et al. 2012
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