A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.
Buntinx
I M
IM
Department of Genetics, University of Antwerp, Belgium.
Lormans
J A
JA
Martin
J J
JJ
Dumon
J E
JE
D000015:Abnormalities, Multiple; D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed