Amish, Mennonite, and Hutterite
Genetic Disorder Database

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 pigmentation, sensorineural hearing impairment, developmental delay/mental retardation, hypotonicity, 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: 2009-03-15 

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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