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255320.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Ptosis; Aplasia/Hypoplasia of the sacrum
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000540.3:c.6617C>T
2
Congenital Myopathy 1B, Autosomal Recessive
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Remarks
No motor delay
References
Alazami et al. 2015
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