Congenital cerebellar ataxia, mental retardation, and atrophic retinal lesions in two brothers.
Ferri
R
R
Azan
G
G
Del Gracco
S
S
Elia
M
M
Musumeci
S A
SA
Stefanini
M C
MC
Toscano
G
G
Setta
F
F
D001284:Atrophy / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology*; D002524:Cerebellar Ataxia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D004562:Electrocardiography; D004576:Electromyography; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012160:Retina / Q000503:physiopathology*; D014888:Wechsler Scales; D014960:X Chromosome