FAM120AOS Associated Disorder

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Mode of Inheritance

Autosomal recessive

Gene Map Locus


Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
FAM120AOS.1Saudi ArabiaUnknownYesYes Coarse facial features; Scoliosis; Pectu...NM_198841.4:c.743C>THomozygousAutosomal, RecessiveAlazami et al. 2015
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