Au-Kline Syndrome (AUKS)

Alias:

Okamoto Syndrome

Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation

Auks

Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to a Point Mutation

Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to a Point Mutation

Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome

Au-Kline-Okamoto Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Au-Kline Syndrome, also known as okamoto syndrome, is related to neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion and kabuki syndrome 1. An important gene associated with Au-Kline Syndrome is HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K). Affiliated tissues include tongue and heart, and related phenotypes are intellectual disability and hypotonia

Related ID：

MALACARDS：AKL001

OMIM：616580

MESH：D000015