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607625.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Microcephaly; Nonprogressive encephalopathy; Seizure; Cerebral atrophy
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006432.5:c.88G>A
2
Niemann-Pick Disease, Type C2
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Remarks
No organomegaly; normal retina
References
Alazami et al. 2015
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