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608629.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Intellectual disability; Generalized hypotonia; Brain atrophy
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001134831.2:c.1051C>T
2
Joubert Syndrome 3
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References
Al-Shamsi et al. 2016
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