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216400.2
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Subject Details
Country
Lebanon
HPO Terms
Failure to thrive; Bird-like facies; Intellectual disability, severe; Microcephaly; Cataract; Retinal degeneration; ; Hearing impairment; Cutaneous photosensitivity ;
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000082.3:c.966C>A
2
Cockayne Syndrome, Type A
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References
Laugel et al, 2010
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