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613454.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Protruding ear; Prominent nasal tip; Wide mouth; Recurrent hand flapping; Titubation; Gastroesophageal reflux; Hypertonia; Ankle clonus
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005249.5:c.689G>T
1
Rett Syndrome, Congenital Variant
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References
Shaheen et al. 2019
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