※ PTMD 2.0 database Online Browse Options

Browse result for Au-Kline syndrome

※ introduction

    Okamoto syndrome (OS), also known as Au¨CKline syndrome (AKS), is a very rare autosomal dominant genetic condition characterised by congenital hydronephrosis, low muscle tone, heart defects, intellectual disability and characteristic facial features.[4][6] Those affected often have neurological and skeletal abnormalities, as well as frequent urinary tract infections. Language and walking are usually delayed. Facial features include prominent, downturned ears, an open, downturned mouth and drooping eyelids (ptosis).[4][5]

Reference
Wiki: Au-Kline syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05835P619783190
HNRNPK
Heterogeneous nuclear ribonucleoprotein K
Homo sapiens