Gene: [08q2/SGM1] segmentation syndrome 1 (Klippel-Feil syndrome); [KFM KFS ]

COM

Clarke-1995 demonstrated that Klippel-Feil syndrome cosegregates with a pericentric inversion inv(8)(q22.2;q23)."

REF

ABR,LOC "Clarke RA &: AJHG, 57, 1364-1370, 1995

CLA

unknown, basic

LOC

08 q22.2-23

MIM

MIM: 148900

SYN

KFM KFS