<unk><unk><unk>  is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filament. KBP may play a key role in cytoskeleton formation and neurite growth.
Hirschsprung's disease may be part of the presentation. Individuals with the<unk>  exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched palate) developmental abnormalities.
Goldberg–Shprintzen syndrome
Smith Martin Dodd syndrome
Saethre-Chotzen syndrome
Bardet-Biedl syndrome
Cruveilhier-Baumgarten syndrome
Weissenbacher-Zweymüller syndrome
Smith-Magenis syndrome
Lawrence-Moon syndrome