| familial dysautonomia |
A rare autosomal recessive disease that affects the nervous system and causes temperature regulation problems, unstable blood pressure, pain insensitivity, vomiting, frequent pneumonia and poor growth. Typically, it is not associated with mental retardation. The disease is most common in individuals of Ashkenazi Jewish descent. Fanconi Anemia C: An autosomal recessive disease that causes early childhood anemia, growth problems, birth defects and cancers. ...
출처: www.genzymegenetics.com/hcp/prenatal/resources/gen...
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