Verheij Syndrome (VRJS)

Alias:

8q24.3 Microdeletion Syndrome

Chromosome 8q24.3 Deletion Syndrome

Deletion 8q24.3

Monosomy 8q24.3

Del(8)(q24.3)

Vrjs

Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Verheij Syndrome, also known as 8q24.3 microdeletion syndrome, is related to microcephaly and coloboma of macula. An important gene associated with Verheij Syndrome is PUF60 (Poly(U) Binding Splicing Factor 60). Affiliated tissues include kidney and heart, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：VRH001

OMIM：615583

MESH：D000015