Refsum Disease, Infantile Form
| Disorder | |
|---|---|
| OMIM #: | #266510 (Click to access OMIM database) |
| Disorder: | Refsum Disease, Infantile Form |
| Also known as: | IRD, INFANTILE PHYTANIC ACID STORAGE DISEASE |
| Clinical | |
| Phenotype: | retinal dystrophy, sensorineural hearing impairment, developmental delay, hypotonia, cerebellar ataxia, other teeth anomalies (small yellow-orange teeth), failure to thrive |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| Unknown | |
| Last updated: | 2022-08-09 |
| References |
|---|
| Bader PI, Dougherty S, Cangany N, Raymond G, and Jackson CE. (2000) Infantile refsum disease in four Amish sibs. Am J Med Genet 90(2): 110-114. PubMed ID: 10607947 |
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