Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).
Hertz
J M
JM
Sivertsen
B
B
Silahtaroglu
A
A
Bugge
M
M
Kalscheuer
V
V
Weber
A
A
Wirth
J
J
Ropers
H-H
HH
Tommerup
N
N
Tümer
Z
Z
D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020161:Physical Chromosome Mapping; D014178:Translocation, Genetic / Q000235:genetics*