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312750.4
Home
Subject Details
Country
Lebanon
HPO Terms
Developmental regression; Intellectual disability; Stereotypical hand wringing
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Sex
Female
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004992.3:c.916C>T
NA
Rett Syndrome
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Remarks
Patient with typical Rett syndrome
References
Corbani S et al. 2012
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