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231670.10.1
Home
Subject Details
Country
Palestine
HPO Terms
Hypotonia; Dystonia; Specific learning disability
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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_000159.4:c.1168G>C
2
Glutaric Acidemia I
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References
Anikster et al. 1996;
Mandel et al, 1991
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
231670.10.2
Palestine
Female
No
Mother of 231670.10.1
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