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FAM120AOS.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Coarse facial features; Scoliosis; Pectus excavatum; Hypotonia; Chronic lung disease; Gastroesophageal reflux
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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_198841.4:c.743C>T
2
FAM120AOS Associated Disorder
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References
Alazami et al. 2015
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