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219000.G
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Subject Details
Country
Lebanon
HPO Terms
Cryptophthalmos; Syndactyly; Abnormality of the upper respiratory tract; urogenital anomalies; Death in infancy
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_025074.6:c.3799C>T
10
Fraser Syndrome 1
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Remarks
4 male patients and 1 female patient; 2 additional stillborn
References
van Haelst et al. 2008;
McGregor et al. 2003
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