Gene: [00.0/KMS] Kabuki make-up syndrome (Niikawa-Kuroki syndrome);

REF

PAT,FOG "Burke LW, Jones MC: Cleft Palate Craniofac J, 32, 77-84, 1995
PAT,FOG "Galan-Gomez E &: Am J Med Genet, 59, 276-282, 1995
PAT,FOG "Halal F &: Am J Med Genet, 33, 376-381, 1989
PAT,FOG "Hughes HE, Davies SJ: Arch Dis Child, 70, 512-514, 1994
PAT,FOG "Ilyina H &: Am J Med Genet, 56, 127-131, 1995
PAT,FOG "Kobayashi O, Sakuragawa N: Am J Med Genet, 61, 92-93, 1996
PAT,FOG "Niikawa N &: Am J Med Genet, 31, 565-589, 1988
PAT,FOG "Niikawa N &: J Pediatr, 99, 565-569, 1981
PAT,FOG "Philip N &: Clin Dysmorph, 1, 63-77, 1992

CLA

unknown, basic

LOC

RS

MIM

MIM: 147920