Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
3p22.3
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610682.1 | Saudi Arabia | Male | Yes | Yes | Skeletal dysplasia; Wide anterior fontan... Skeletal dysplasia; Wide anterior fontanel; Micrognathia; Hand polydactyly; Narrow chest  | NM_006371.5:c.826C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 610682.2 | Saudi Arabia | Female | Yes | Osteopenia; Recurrent fractures Osteopenia; Recurrent fractures | NM_006371.5:c.561T>G | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |