Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature.
Armstrong
L
L
Clarke
J T R
JT
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D010329:Patella / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000175:diagnosis*