Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome?
Witters
I
I
Department of Obstetrics and Gynecology, University of Leuven, Belgium. Ingrid.Witters@uz.kuleuven.ac.be
Fryns
J P
JP
D000293:Adolescent; D005145:Face / Q000002:abnormalities*; D005260:Female; D014644:Genetic Variation; D006197:Hair / Q000502:physiology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008046:Lip / Q000002:abnormalities*; D008060:Lipodystrophy / Q000235:genetics*