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259700.1
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Subject Details
Country
Lebanon
HPO Terms
Hepatosplenomegaly; Increased bone mineral density; Sclerosis of skull base; Frontal cortical atrophy; Temporal cortical atrophy; Hypochromic anemia; Pancytopenia
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Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006019.3:c.702del
2
0.12
Osteopetrosis, Autosomal Recessive 1
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References
Souraty et al. 2007
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