Van Buchem disease
| Disorder | |
|---|---|
| OMIM #: | #239100 (Click to access OMIM database) |
| Disorder: | Van Buchem disease |
| Also known as: | HYPEROSTOSIS CORTICALIS GENERALISATA, HYPERPHOSPHATASEMIA TARDA, ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE |
| Clinical | |
| Phenotype: | Osteosclerosis, optic atrophy, hearing impairment, ossification abnormalities |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-12 |
| References |
|---|
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
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