Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4.
Fryns
J P
JP
Van den Berghe
H
H
Schrander-Stumpel
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome