You are using an outdated browser. Please upgrade your browser to improve your experience.
Kabuki syndrome 1
Disease Summary
Associated Targets (2)
Tchem
1
Tbio
1
Uniprot Description A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.