Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
9q31.2
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]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615066.1.1 | Saudi Arabia | Female | Yes | Yes | Recurrent fractures Recurrent fractures  | NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615066.1.2 | Saudi Arabia | Female | Yes | Yes | Recurrent fractures Recurrent fractures | NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Relative of 615066.1... |
| 615066.2 | Saudi Arabia | Male | Yes | Yes | Recurrent fractures; Bowing of the legs Recurrent fractures; Bowing of the legs | NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615066.G.1 | Saudi Arabia | Female | Yes | Yes | Recurrent fractures; Delayed speech and ... Recurrent fractures; Delayed speech and language development | NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Four related patient... |
| 615066.G.2 | Saudi Arabia | Yes | Yes | Recurrent fractures Recurrent fractures | NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Four related patient... | |
| 615066.G.3 | Palestine | Yes | Yes | Recurrent fractures; Osteoporosis; Abnor... Recurrent fractures; Osteoporosis; Abnormality of limb bone morphology; Pseudoarthrosis; Wormian bones; Short stature | NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | Homozygous | Autosomal, Recessive | Volodarsky et al. 2013 | 10 patients from thr... |