Au-Kline sendromu
Kalıtsal - AD
Dolikosefali
Kraniyosinostozis
Yüz uzun
Kulaklarda malformayon
Göz kapak yarıkları uzun ve aşağı çekik
Ptozis
Kaşlar distalde seyrek
Burun yayvan
Ağız açık
Dil buruşuk (skrotal)
Çukur damak
Yarık damak
Oligodonti
Ense derisi kalın
Kalp anomalileri
Toraks anoalileri
Meme uçları açıklığı aşırı
İnmemiş testisler
Ridged metopic suture
Skolyoz
Parmak anomalileri
Psikomotor gerilik
Hipotoni
-
Au PYB, You J, Caluseriu O, et al. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Human Mutation, 36: 1009-1014, 2015
-
Lange L, Pagnamenta AT, Lise S, et al. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. Clinical Genetics, 90: 258-262, 2016
-
Miyake N, Inaba M, Mizuno S, et al. A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. (Letter) Clinical Genetics, 92: 554-555, 2017
-
Au PYB, Goedhart C, Ferguson M, et al. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. European Journal of Human Genetics, 26: 1272-1281, 2018