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612830.1
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Subject Details
Country
Jordan
HPO Terms
Intellectual disability; Motor delay; Aggressive behavior
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004753.7:c.328G>A
2
Intellectual Deficiency, Autosomal Recessive, Unclassified
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Remarks
Has three similarly affected siblings, one of whom died
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