Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion

Alias:

9q21.3 Microdeletion Syndrome

Del(9)(q21.3)

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Gene & Mutation

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Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion, is also known as 9q21.3 microdeletion syndrome. An important gene associated with Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion is HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K). Affiliated tissues include bone and tongue, and related phenotypes are hypotonia and long palpebral fissure

Related ID：

MALACARDS：NRD064