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X-linked mental retardation KIAA2022

Genetics: - associated with defects in AFF2 - chromosomal inversion inv(X)(p22.3;q13.2) involving KIAA2022 is found in 2 patients with severe mental retardation

General

X-linked mental retardation; X-linked intellectual disability (XLID)

References

UniProt :accession Q5QGS0