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601780.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Neurodevelopmental abnormality
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_017882.3:c.791CCT[1]
2
Ceroid Lipofuscinosis, Neural, 6A
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References
Monies et al. 2017
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