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270200.3.1
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Subject Details
Country
Jordan
HPO Terms
Global developmental delay; Ichthyosis
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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_000382.3:c.628G>A
2
Sjogren-Larsson Syndrome
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References
Makrythanasis et al. 2014
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