Osteogenesis Imperfecta, Type XIV

Alternative Names

  • OI14
  • OI, Type XIV
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

615066

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q31.2

Description

Osteogenesis imperfecta type XIV (OI14) is an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615066.1.1Saudi ArabiaFemaleYesYes Recurrent fracturesNM_018112.3:c.457_542+2delHomozygousAutosomal, RecessiveShaheen et al. 2012; Maddirevula et al. 2018
615066.1.2Saudi ArabiaFemaleYesYes Recurrent fracturesNM_018112.3:c.457_542+2delHomozygousAutosomal, RecessiveShaheen et al. 2012; Maddirevula et al. 2018 Relative of 615066.1...
615066.2Saudi ArabiaMaleYesYes Recurrent fractures; Bowing of the legsNM_018112.3:c.457_542+2delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
615066.G.1Saudi ArabiaFemaleYesYes Recurrent fractures; Delayed speech and ...NM_018112.3:c.457_542+2delHomozygousAutosomal, RecessiveShaheen et al. 2012; Maddirevula et al. 2018 Four related patient...
615066.G.2Saudi ArabiaYesYes Recurrent fracturesNM_018112.3:c.457_542+2delHomozygousAutosomal, RecessiveShaheen et al. 2012; Maddirevula et al. 2018 Four related patient...
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