Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Devriendt
K
K
Detroch
C
C
Decock
P
P
D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D009666:Nose / Q000002:abnormalities*; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome