Osteogenesis imperfecta, type VIII
| Disorder | |
|---|---|
| OMIM #: | #610915 (Click to access OMIM database) |
| Disorder: | Osteogenesis imperfecta, type VIII |
| Also known as: | OI, TYPE VIII |
| Clinical | |
| Phenotype: | fractures, bone fragility, low bone mass, vertebral defects, limb bowing, white sclerae, severe growth deficiency, short stature, extreme skeletal undermineralization, bulbous metaphyses, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | P3H1 |
| Base Change: | C>T, at nucleotide 1460 |
| Amino Acid Change: | |
| Last updated: | 2022-11-11 |
| References |
|---|
| Personal communication; seen at CSC. |
Back