Kohlschütter-Tönz sendromu

Kalıtsal - AR

Gelişme geriliği

Mine hipoplazisi

Beyin ve serebellum hipoplazisi

Psikomotor gerilik

Epileptik ataklar

Konuşmada güçlük

Hipertoni

Spastik yapı

Ataksi

Zeka geriliği

Haberlandt E, Svejda C, Felber S, et al. Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschutter-Tonz syndrome. American Journal of Medical Genetics A, 140A: 281-283, 2006
Schossig A, Wolf N, Koch MJ, et al. Epileptische enzephalopathie und zahnschmelzdefekt (Kohlschutter-Tonz-Syndrom): Drei fallberichte und literaturubersicht. Medizinische Genetik, 4: 422-426, 2007
Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009
Schossig A, Wolf NI, Kapferer I, et al. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome. European Journal of Medical Genetics, 55(5):319-322, 2012
Schossig A, Wolf NI, Fischer C, et al. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. American Journal of Human Genetics, 90(4):701-717, 2012
Tucci A, Kara E, Schossig A, et al. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation, 34(2):296-300, 2013