An infant with myoclonic jerks, global developmental delay, and failure to thrive.
Lee
Chia-Wen
CW
Children's Hospital of Michigan, Detroit, MI, USA. clee@dmc.org
Bawle
Erawati V
EV
D001921:Brain / Q000473:pathology; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005183:Failure to Thrive / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009207:Myoclonus / Q000175:diagnosis* / Q000235:genetics