rs2143756208

This variant is located in the ZNF668 gene.

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ClinVar annotation

Pathogenic
2 submitters2 publications

marked facial dysmorphism;Profound global developmental delay;Progressive microcephaly;Failure to thrive; Severe short-limb dwarfism; Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies

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About ZNF668

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and zinc ion binding activity. Involved in DNA repair. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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